ABSTRACT Studies show that patients' recall of their CCU stays is extremely limited due t... more ABSTRACT Studies show that patients' recall of their CCU stays is extremely limited due to various factors. To monitor patient satisfaction in this area, a team of CCU managers developed a survey and began an "All-Out Recovery Program."
de sobrepeso/obesidade entre as crianças com constipação crônica funcional está dentro dos valore... more de sobrepeso/obesidade entre as crianças com constipação crônica funcional está dentro dos valores esperados para a população pediátrica brasileira.
OBJECTIVE: To compare two periods (A 1992-1995 and B 2002-2005) regarding the number of offic... more OBJECTIVE: To compare two periods (A 1992-1995 and B 2002-2005) regarding the number of office visits for chronic constipation, considering the number of visits for gastrointestinal problems; the number and percentage of visits for chronic constipation; and the number of visits for constipation per period of care. METHODS: During period A, 359 patients were assisted for a period of four hours/week. During period B, 624 patients were assisted at three different periods of four hours/week. RESULTS: From A to B, there was an increase in: number of patients assisted, number of visits due to gastrointestinal problems (2.8 times) and number of visits due to constipation (2.6 times). However, the proportion of visits due to constipation was similar in both periods (A - 35.6% and B - 34.6%). Also, there was a rise in the number of periods for clinical assistance in Time B (2.9 times greater), with an equal mean number of visits per period (A - 17.4 and B - 16.6) and mean visits due to constipation per period (A- 6.1 and B - 5.5). CONCLUSIONS: The increase number, but not proportion, of visits for constipation may have occurred due to a stable population prevalence of this disorder, generating demand beyond the capacity for referral by generalist pediatricians. Also, the lack of skill of the generalist pediatrician to manage this clinical problem could have increased the number of referrals to specialists.
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service ... more We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.
Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by ... more Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by hypotonia and muscular weakness and, on imaging studies, by white matter (WM) abnormality. Objective: To evaluate MRI findings in Brazilian patients with merosin-deficient CMD. Materials and methods: Twenty-five patients were evaluated using MRI. Three patients presented with partial merosin deficiency and 22 with total merosin deficiency. Follow-up examinations were done in 7 cases. T1- and T2-weighted images were performed in all examinations, and fluid-attenuated inversion recovery (FLAIR) was performed in 15. Enhanced images were done in 11 cases. The WM involvement was classified according to location and severity. Results: From 1991 to 2004, 32 MRI examinations were performed. Severe involvement was found in 23 patients in the frontal and temporal lobes, in 18 patients in the parietal lobes, and in 7 patients in the occipital lobes. The brain stem (n=5), cerebellum (n=6), internal capsules (n=1), and external capsules (n=5) were also affected. One patient had occipital pachygyria, and one had cerebellar vermian hypoplasia. No gadolinium enhancement was noted. Follow-up MRI showed no interval change (n=4), progression (n=1), or improvement of the findings (n=2). Conclusion: This series of patients demonstrated that there was no correlation between the extent of WM abnormality on MRI and the clinical status and degree of merosin deficiency (partial or total). Bilateral WM involvement was seen to be more prominent in the parietal, frontal, and temporal regions of the brain. The brain stem and internal and external capsules were less affected. Cerebellar WM involvement is rare. Changes on follow-up imaging studies did not correlate with the clinical status of the patient.
The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dyst... more The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin-positive (MP) CMD subgroup. OBJECTIVE: To analyze the immunohistochemical expression of the main proteins of the dystrophin-glycoproteins associated complex in muscle biopsy of patients with different CMD phenotypes, for investigating a possible correlation with clinical and histopathological data. METHOD: Fifty-nine patients with CMD had clinical, histopathological and immunohistochemical data evaluated: 32 had MP-CMD, 23 CMD with merosin deficiency (MD-CMD), one Ullrich phenotype and three Walker-Warburg disease. RESULTS: Dystrophin and dysferlin were normal in all; among the patients with MD-CMD, merosin deficiency was partial in nine who showed the same clinical severity as those with total deficiency; the reduced expression of a-sarcoglycan (SG) and a-dystroglycan (DG) showed statistically significant correlation with severe MD-CMD phenotype. CONCLUSION: There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of b-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.
A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or ... more A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic
Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an au... more Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.
OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and moto... more OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD), aged between 5 and 12 years on steroid therapy. METHOD: Assessments were made monthly for the first six months and with intervals of two months thereafter until the 14-month end point. The tests employed included: the Medical Research Council (MRC) scale; the Hammersmith motor ability score; maximum weight lift; timed rise from floor and nine-meter walk. RESULTS: The results showed that loss of muscular strength and motor abilities were slowed in comparison to that observed in the natural evolution of the disease according to the literature. CONCLUSION: We conclude that a swift and objective assessment may be performed using the MRC scale for lower limbs and trunk, the Hammersmith motor ability score, timed nine-meter walk and weight lifts.
This study was based on a prospective and a retrospective analysis of 35 patients who met Bohan a... more This study was based on a prospective and a retrospective analysis of 35 patients who met Bohan and Peter criteria for juvenile dermatomyositis diagnosis.The mean follow-up time was three years ten months. Calcinosis was present in five (14.28 %) patients, cutaneous ulcers in four (11.42%), and systemic involvement in nine (27.71%) patients. All patients presented alterations in the serum levels of muscle enzymes, and all of them were submitted to muscle biopsy as a diagnostic procedure. Nine (25.71%) patients received corticotherapy prior to and 26 (74.28%) after the muscle biopsy. Chloroquine, methotrexate, cyclosporine, cyclophosphamide and intravenous immunoglobulin were used in patients with poor response to corticotherapy. Continuation of cutaneous manifestations was observed in 4 (11.43%) patients, laboratorial activity in 1 (2.85%), cutaneous and laboratorial activities in 3 (8.57%). Ten (28.57%) patients were out of activity, and 17 (48.57%) in remission at study end-point, on March 2002. Two (5.71%) patients died.
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised... more We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, downslant... more We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, downslanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and ... more Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identi®ed as the cause of nemaline myopathy: the gene for slow a-tropomyosin 3 (TPM3) at 1q22±23, the nebulin gene (NEB) at 2q21.1±q22, and the actin gene (ACTA1) at 1q42. The typical autosomal recessive form appears to be the most common one and is caused by mutations in the nebulin gene. We have studied the pattern of nebulin labeling, in patients with the typical congenital form (ten patients), the severe congenital form (two patients) or the mild, childhood-onset form (one patient), using antibodies against three different domains of nebulin. A qualitative and quantitative nebulin analysis in muscle tissue showed the presence of nebulin in myo®bers from all patients. Some differences relating to the rod structure were observed. The majority of the largest subsarcolemmal rods were not labeled with the N2 nebulin antibody (I-band epitope) and showed an indistinct pattern with the two antibodies directed to the Z-band portion of nebulin (epitopes M176±181 and serine-rich domain). Diffuse rods were not revealed using the three antibodies. A discordant pattern of nebulin N2 epitope labeling was found in two affected sisters with a mutation in the nebulin gene, suggesting that modi®cations in nebulin distribution inside the rods might occur with the progression of the disease. Western blot analysis showed no direct correlation with immuno¯uorescence data. In nine patients, the band had a molecular weight comparable to the normal control, while in one patient, it was detected with a higher molecular weight. Our results suggest that presence/absence of speci®c nebulin Zband epitopes in rod structures is variable and could depend on the degree of rod organization. q
Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It ... more Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.
ABSTRACT Studies show that patients' recall of their CCU stays is extremely limited due t... more ABSTRACT Studies show that patients' recall of their CCU stays is extremely limited due to various factors. To monitor patient satisfaction in this area, a team of CCU managers developed a survey and began an "All-Out Recovery Program."
de sobrepeso/obesidade entre as crianças com constipação crônica funcional está dentro dos valore... more de sobrepeso/obesidade entre as crianças com constipação crônica funcional está dentro dos valores esperados para a população pediátrica brasileira.
OBJECTIVE: To compare two periods (A 1992-1995 and B 2002-2005) regarding the number of offic... more OBJECTIVE: To compare two periods (A 1992-1995 and B 2002-2005) regarding the number of office visits for chronic constipation, considering the number of visits for gastrointestinal problems; the number and percentage of visits for chronic constipation; and the number of visits for constipation per period of care. METHODS: During period A, 359 patients were assisted for a period of four hours/week. During period B, 624 patients were assisted at three different periods of four hours/week. RESULTS: From A to B, there was an increase in: number of patients assisted, number of visits due to gastrointestinal problems (2.8 times) and number of visits due to constipation (2.6 times). However, the proportion of visits due to constipation was similar in both periods (A - 35.6% and B - 34.6%). Also, there was a rise in the number of periods for clinical assistance in Time B (2.9 times greater), with an equal mean number of visits per period (A - 17.4 and B - 16.6) and mean visits due to constipation per period (A- 6.1 and B - 5.5). CONCLUSIONS: The increase number, but not proportion, of visits for constipation may have occurred due to a stable population prevalence of this disorder, generating demand beyond the capacity for referral by generalist pediatricians. Also, the lack of skill of the generalist pediatrician to manage this clinical problem could have increased the number of referrals to specialists.
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service ... more We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.
Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by ... more Background: Merosin-deficient congenital muscular dystrophy (CMD) is characterized clinically by hypotonia and muscular weakness and, on imaging studies, by white matter (WM) abnormality. Objective: To evaluate MRI findings in Brazilian patients with merosin-deficient CMD. Materials and methods: Twenty-five patients were evaluated using MRI. Three patients presented with partial merosin deficiency and 22 with total merosin deficiency. Follow-up examinations were done in 7 cases. T1- and T2-weighted images were performed in all examinations, and fluid-attenuated inversion recovery (FLAIR) was performed in 15. Enhanced images were done in 11 cases. The WM involvement was classified according to location and severity. Results: From 1991 to 2004, 32 MRI examinations were performed. Severe involvement was found in 23 patients in the frontal and temporal lobes, in 18 patients in the parietal lobes, and in 7 patients in the occipital lobes. The brain stem (n=5), cerebellum (n=6), internal capsules (n=1), and external capsules (n=5) were also affected. One patient had occipital pachygyria, and one had cerebellar vermian hypoplasia. No gadolinium enhancement was noted. Follow-up MRI showed no interval change (n=4), progression (n=1), or improvement of the findings (n=2). Conclusion: This series of patients demonstrated that there was no correlation between the extent of WM abnormality on MRI and the clinical status and degree of merosin deficiency (partial or total). Bilateral WM involvement was seen to be more prominent in the parietal, frontal, and temporal regions of the brain. The brain stem and internal and external capsules were less affected. Cerebellar WM involvement is rare. Changes on follow-up imaging studies did not correlate with the clinical status of the patient.
The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dyst... more The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin-positive (MP) CMD subgroup. OBJECTIVE: To analyze the immunohistochemical expression of the main proteins of the dystrophin-glycoproteins associated complex in muscle biopsy of patients with different CMD phenotypes, for investigating a possible correlation with clinical and histopathological data. METHOD: Fifty-nine patients with CMD had clinical, histopathological and immunohistochemical data evaluated: 32 had MP-CMD, 23 CMD with merosin deficiency (MD-CMD), one Ullrich phenotype and three Walker-Warburg disease. RESULTS: Dystrophin and dysferlin were normal in all; among the patients with MD-CMD, merosin deficiency was partial in nine who showed the same clinical severity as those with total deficiency; the reduced expression of a-sarcoglycan (SG) and a-dystroglycan (DG) showed statistically significant correlation with severe MD-CMD phenotype. CONCLUSION: There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of b-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.
A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or ... more A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic
Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an au... more Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.
OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and moto... more OBJECTIVE: An assessment protocol was applied to quantify and describe muscular strength and motor abilities of 32 patients with Duchenne muscular dystrophy (DMD), aged between 5 and 12 years on steroid therapy. METHOD: Assessments were made monthly for the first six months and with intervals of two months thereafter until the 14-month end point. The tests employed included: the Medical Research Council (MRC) scale; the Hammersmith motor ability score; maximum weight lift; timed rise from floor and nine-meter walk. RESULTS: The results showed that loss of muscular strength and motor abilities were slowed in comparison to that observed in the natural evolution of the disease according to the literature. CONCLUSION: We conclude that a swift and objective assessment may be performed using the MRC scale for lower limbs and trunk, the Hammersmith motor ability score, timed nine-meter walk and weight lifts.
This study was based on a prospective and a retrospective analysis of 35 patients who met Bohan a... more This study was based on a prospective and a retrospective analysis of 35 patients who met Bohan and Peter criteria for juvenile dermatomyositis diagnosis.The mean follow-up time was three years ten months. Calcinosis was present in five (14.28 %) patients, cutaneous ulcers in four (11.42%), and systemic involvement in nine (27.71%) patients. All patients presented alterations in the serum levels of muscle enzymes, and all of them were submitted to muscle biopsy as a diagnostic procedure. Nine (25.71%) patients received corticotherapy prior to and 26 (74.28%) after the muscle biopsy. Chloroquine, methotrexate, cyclosporine, cyclophosphamide and intravenous immunoglobulin were used in patients with poor response to corticotherapy. Continuation of cutaneous manifestations was observed in 4 (11.43%) patients, laboratorial activity in 1 (2.85%), cutaneous and laboratorial activities in 3 (8.57%). Ten (28.57%) patients were out of activity, and 17 (48.57%) in remission at study end-point, on March 2002. Two (5.71%) patients died.
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised... more We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, downslant... more We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, downslanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and ... more Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identi®ed as the cause of nemaline myopathy: the gene for slow a-tropomyosin 3 (TPM3) at 1q22±23, the nebulin gene (NEB) at 2q21.1±q22, and the actin gene (ACTA1) at 1q42. The typical autosomal recessive form appears to be the most common one and is caused by mutations in the nebulin gene. We have studied the pattern of nebulin labeling, in patients with the typical congenital form (ten patients), the severe congenital form (two patients) or the mild, childhood-onset form (one patient), using antibodies against three different domains of nebulin. A qualitative and quantitative nebulin analysis in muscle tissue showed the presence of nebulin in myo®bers from all patients. Some differences relating to the rod structure were observed. The majority of the largest subsarcolemmal rods were not labeled with the N2 nebulin antibody (I-band epitope) and showed an indistinct pattern with the two antibodies directed to the Z-band portion of nebulin (epitopes M176±181 and serine-rich domain). Diffuse rods were not revealed using the three antibodies. A discordant pattern of nebulin N2 epitope labeling was found in two affected sisters with a mutation in the nebulin gene, suggesting that modi®cations in nebulin distribution inside the rods might occur with the progression of the disease. Western blot analysis showed no direct correlation with immuno¯uorescence data. In nine patients, the band had a molecular weight comparable to the normal control, while in one patient, it was detected with a higher molecular weight. Our results suggest that presence/absence of speci®c nebulin Zband epitopes in rod structures is variable and could depend on the degree of rod organization. q
Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It ... more Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.
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