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1.
J Pediatr Ophthalmol Strabismus ; 60(4): e35-e37, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37478202

RESUMO

A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red reflex, hypotonia, cerebral hypoplasia, and iris bombe on ultrasound biomicroscopy, a feature not previously reported in this syndrome. She responded favorably to surgical management. Iris bombe can be a cause of glaucoma in muscle-eye-brain disease. This highlights the importance of incorporating ultrasound biomicroscopy into the diagnostic algorithm of muscle-eye-brain disease and other types of congenital syndromic glaucoma. [J Pediatr Ophthalmol Strabismus. 2023;60(4):e35-e37.].


Assuntos
Glaucoma , Doenças da Íris , Síndrome de Walker-Warburg , Feminino , Humanos , Pré-Escolar , Iris/cirurgia , Iris/anormalidades , Síndrome de Walker-Warburg/complicações , Doenças da Íris/diagnóstico , Doenças da Íris/cirurgia , Glaucoma/diagnóstico , Glaucoma/etiologia , Glaucoma/cirurgia , Microscopia Acústica
2.
J Pediatr Ophthalmol Strabismus ; 60(2): e8-e10, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36975116

RESUMO

Botulinum toxin A injection is a safe alternative procedure to surgery in the management of different types of strabismus. Serious complications such as globe perforation are rare in expert hands. The authors report a case of a child known to have a muscle-eye-brain disease with high myopia who developed endophthalmitis following inadvertent penetrating intraocular botulinum toxin A injection for strabismus correction. To their knowledge, this serious complication after penetrating botulinum toxin A injection has not been previously reported. [J Pediatr Ophthalmol Strabismus. 2023;60(2):e8-e10.].


Assuntos
Toxinas Botulínicas Tipo A , Estrabismo , Síndrome de Walker-Warburg , Humanos , Masculino , Lactente , Pressão Intraocular , Endoftalmite/diagnóstico , Endoftalmite/etiologia , Toxinas Botulínicas Tipo A/administração & dosagem , Toxinas Botulínicas Tipo A/efeitos adversos , Administração Oftálmica , Ferimentos Oculares Penetrantes , Síndrome de Walker-Warburg/complicações
3.
Brain Dev ; 43(1): 106-110, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32723526

RESUMO

BACKGROUND: Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. Previous studies reported that more than half of patients exhibit seizures in childhood. However, little is known about epilepsy after childhood. METHODS: To elucidate the long-term clinical course of epilepsy, we retrospectively reviewed all medical records in nine patients (6 males, mean age 20.7 years) with FCMD diagnosed between 1981 and 2019. RESULTS: The follow-up periods ranged from 6 to 30 years (mean 18.4 years). A total of 75 EEG recordings were available from nine patients. In some patients, EEGs were normal during early childhood but tended to show paroxysmal discharges with age. Overall, epileptic seizures were observed in six patients. Except for one presenting with afebrile seizure at one year of age, the remaining five patients developed epilepsy between 13 and 22 years of age. The most common seizure type was focal impaired awareness seizure. After adolescence, four patients exhibited status epilepticus. Their convulsive movements of the seizures became less prominent with progression of the disease. At the last evaluation, most patients (5/6) had uncontrolled seizures. CONCLUSIONS: Despite presence of distinct brain malformation, epileptic seizures may develop after childhood in FCMD patients. Our experience suggests that clinicians should be careful not to overlook epileptic seizures, especially in advanced-stage patients who had profound muscle weakness.


Assuntos
Epilepsia/epidemiologia , Síndrome de Walker-Warburg/fisiopatologia , Adolescente , Adulto , Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Epilepsia/fisiopatologia , Feminino , Humanos , Japão/epidemiologia , Estudos Longitudinais , Masculino , Distrofias Musculares/fisiopatologia , Malformações do Sistema Nervoso , Estudos Retrospectivos , Convulsões/fisiopatologia , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/epidemiologia , Adulto Jovem
4.
AJNR Am J Neuroradiol ; 42(1): 167-172, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33122211

RESUMO

BACKGROUND AND PURPOSE: Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are α-dystroglycan-related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric hospitals and reported the radiologic features and frequency of inner ear dysplasias. MATERIALS AND METHODS: Patients previously diagnosed clinicoradiologically with Walker-Warburg syndrome, muscle-eye-brain disease, or Fukuyama congenital muscular dystrophy were included. We recorded the pathogenic variant, when available. Brain MR imaging and/or CT findings were reviewed in consensus, and inner ear anomalies were classified according to previous description in the literature. We then correlated the clinicoradiologic phenotype with the inner ear phenotype. RESULTS: Thirteen patients fulfilled the criteria for the Walker-Warburg syndrome phenotype, 8 for muscle-eye-brain disease, and 3 for Fukuyama congenital muscular dystrophy. A dysplastic cochlea was demonstrated in 17/24. The most frequent finding was a pronounced cochlear hypoplasia type 4 with a very small anteriorly offset turn beyond the normal-appearing basal turn (12/13 patients with Walker-Warburg syndrome and 1/11 with muscle-eye-brain disease or Fukuyama congenital muscular dystophy). Two of 8 patients with muscle-eye-brain disease, 1/3 with Fukuyama congenital muscular dystrophy, and 1/13 with Walker-Warburg syndrome showed a less severe cochlear hypoplasia type 4. The remaining patients without Walker-Warburg syndrome were healthy. The vestibule and lateral semicircular canals of all patients were normal. Cranial nerve VIII was present in all patients with diagnostic MR imaging. CONCLUSIONS: Most patients with the severe α-dystroglycanopathy Walker-Warburg syndrome phenotype have a highly characteristic cochlear hypoplasia type 4. Patients with the milder variants, muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, more frequently have a normal cochlea or milder forms of hypoplasia.


Assuntos
Cóclea/anormalidades , Síndrome de Walker-Warburg/patologia , Adolescente , Criança , Pré-Escolar , Distroglicanas/genética , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Neuroimagem , Fenótipo , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/genética , Adulto Jovem
5.
PLoS Genet ; 16(5): e1008826, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32453729

RESUMO

Hearing loss (HL) is one of the most common sensory impairments and etiologically and genetically heterogeneous disorders in humans. Muscular dystrophies (MDs) are neuromuscular disorders characterized by progressive degeneration of skeletal muscle accompanied by non-muscular symptoms. Aberrant glycosylation of α-dystroglycan causes at least eighteen subtypes of MD, now categorized as MD-dystroglycanopathy (MD-DG), with a wide spectrum of non-muscular symptoms. Despite a growing number of MD-DG subtypes and increasing evidence regarding their molecular pathogeneses, no comprehensive study has investigated sensorineural HL (SNHL) in MD-DG. Here, we found that two mouse models of MD-DG, Largemyd/myd and POMGnT1-KO mice, exhibited congenital, non-progressive, and mild-to-moderate SNHL in auditory brainstem response (ABR) accompanied by extended latency of wave I. Profoundly abnormal myelination was found at the peripheral segment of the cochlear nerve, which is rich in the glycosylated α-dystroglycan-laminin complex and demarcated by "the glial dome." In addition, patients with Fukuyama congenital MD, a type of MD-DG, also had latent SNHL with extended latency of wave I in ABR. Collectively, these findings indicate that hearing impairment associated with impaired Schwann cell-mediated myelination at the peripheral segment of the cochlear nerve is a notable symptom of MD-DG.


Assuntos
Nervo Coclear/metabolismo , Distroglicanas/genética , Perda Auditiva Neurossensorial/metabolismo , Proteína Básica da Mielina/metabolismo , N-Acetilglucosaminiltransferases/genética , Síndrome de Walker-Warburg/fisiopatologia , Adolescente , Animais , Criança , Pré-Escolar , Modelos Animais de Doenças , Feminino , Técnicas de Inativação de Genes , Glicosilação , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Masculino , Camundongos , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/genética , Adulto Jovem
6.
J Infect Chemother ; 26(5): 516-519, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31983616

RESUMO

BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD), which is characterized by generalized muscle weakness, hypotonia, and motor delay during early infancy, gradually progresses with advanced age. Although acute rhabdomyolysis following infection in patients with FCMD has occasionally been reported, no studies have investigated rhabdomyolysis following viral infection in FCMD patients during early infancy. CASE REPORT: We report the case of a 50-day-old girl with no apparent symptoms of muscular dystrophy who developed severe acute rhabdomyolysis caused by viral infection, resulting in quadriplegia and respiratory failure therefore requiring mechanical ventilation. Brain magnetic resonance imaging incidentally showed the typical characteristics of FCMD, and FCMD was confirmed by genetic analysis, which revealed a 3-kb retrotransposon insertion in one allele of the fukutin gene and a deep intronic splicing variant in intron 5 in another allele. The virus etiology was confirmed to be Coxsackie A4. CONCLUSION: We report a severe case of acute rhabdomyolysis with the earliest onset of symptoms due to the Coxsackie A4 virus in a patient with FCMD. The present findings indicate that physicians should consider FCMD with viral infection a differential diagnosis if the patient presents with acute rhabdomyolysis following a fever.


Assuntos
Infecções por Coxsackievirus/virologia , Enterovirus Humano A/patogenicidade , Rabdomiólise/virologia , Síndrome de Walker-Warburg/complicações , Doença Aguda , Infecções por Coxsackievirus/complicações , Infecções por Coxsackievirus/diagnóstico , Diagnóstico Diferencial , Enterovirus Humano A/genética , Enterovirus Humano A/isolamento & purificação , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Proteínas de Membrana/genética , Reação em Cadeia da Polimerase , Quadriplegia/etiologia , RNA Viral , Respiração Artificial , Insuficiência Respiratória/etiologia , Rabdomiólise/complicações , Rabdomiólise/diagnóstico , Índice de Gravidade de Doença , Síndrome de Walker-Warburg/diagnóstico , Síndrome de Walker-Warburg/virologia
7.
Neuromuscul Disord ; 28(10): 885-893, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30220444

RESUMO

Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013. Mean patient age at first registration was 8.1 ±â€¯7.8 years (median, 6 years; range, 0-42 years). A homozygous 3-kb founder insertion mutation in the FKTN gene was present in 80% of registrants, whereas 20% had a compound heterozygous mutation. Sixty-nine patients (33%) had febrile seizures and/or epilepsy. Myopia was the most frequently detected abnormality (8.7%), followed by strabismus (5.9%). Overall, 16% of patients required respiratory support and this percentage increased with age. Cardiac dysfunction was detected in 16%, and dysphagia was observed in 22% of patients with FCMD. The FCMD patient registry is useful for clarifying the natural history of FCMD and recruiting patients for clinical trials.


Assuntos
Sistema de Registros , Síndrome de Walker-Warburg/epidemiologia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Japão/epidemiologia , Masculino , Proteínas de Membrana/genética , Mutação , Estudos Retrospectivos , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/genética , Síndrome de Walker-Warburg/terapia , Adulto Jovem
8.
Pediatr Dev Pathol ; 21(3): 319-323, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29187032

RESUMO

Objective Herein, we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing. Results Exome sequencing of the proband, mother and father identified a previously unreported apparently de novo heterozygous tubulin, beta-3 ( TUBB3) c.523G>C (p.V175L) alteration in the proband. Conclusion Overall, DES established a likely molecular genetic diagnosis for a postmortem case after traditional testing methods were uninformative. The DES results allowed for reproductive options, such as preimplantation genetic diagnosis and/or prenatal diagnosis, to be available to the parents in future pregnancies.


Assuntos
Sequenciamento do Exoma , Hidrocefalia/diagnóstico , Diagnóstico Pré-Natal , Tubulina (Proteína)/genética , Síndrome de Walker-Warburg/diagnóstico , Evolução Fatal , Feminino , Marcadores Genéticos , Heterozigoto , Humanos , Hidrocefalia/etiologia , Recém-Nascido , Gravidez , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/genética
9.
Am J Med Genet A ; 173(11): 3082-3086, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28980384

RESUMO

Walker-Warburg syndrome (WWS) is a rare autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in α-dystroglycan glycosylation have been implicated in the aetiology of WWS. We describe a patient with nonclassical features of WWS presenting with heart failure related to noncompaction cardiomyopathy resulting in death at 4 months of age. Muscle biopsy revealed absent α-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy.


Assuntos
Cardiomiopatias/genética , Anormalidades do Olho/genética , Manosiltransferases/genética , Síndrome de Walker-Warburg/genética , Encéfalo/patologia , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico , Cardiomiopatias/patologia , Anormalidades do Olho/patologia , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Mutação , Linhagem , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/diagnóstico , Síndrome de Walker-Warburg/patologia
10.
Am J Med Genet A ; 173(10): 2697-2702, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28815891

RESUMO

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes. We report on a consanguineous family with four consecutive siblings affected by this condition with lethal outcome in three (still birth), and termination of the fourth pregnancy based on antenatal MRI identification of brain and kidney anomalies that heralded proper and deep clinical phenotyping. The diagnosis of WWS was suggested based on the unique collective phenotype comprising brain anomalies in the form of lissencephaly, subcortical/subependymal heterotopia, and cerebellar hypoplasia shared by all four siblings; microphthalmia in one sibling; and large cystic kidneys in the fetus and another sibling. Other unshared neurological abnormalities included hydrocephalus and Dandy-Walker malformation. Whole exome sequencing of the fetus revealed a highly conserved missense mutation in POMT2 that is known to cause WWS with brain and eye anomalies.In conclusion, the heterogeneous clinical presentation in the four affected conceptions with POMT2 mutation expands the current clinical spectrum of POMT2-associated WWS to include large cystic kidneys; and confirms intra-familial variability in terms of brain, kidney, and eye anomalies.


Assuntos
Doenças Fetais/patologia , Doenças Renais Císticas/patologia , Manosiltransferases/genética , Mutação de Sentido Incorreto , Síndrome de Walker-Warburg/complicações , Feminino , Doenças Fetais/genética , Predisposição Genética para Doença , Humanos , Doenças Renais Císticas/etiologia , Masculino , Linhagem , Fenótipo , Gravidez , Irmãos , Síndrome de Walker-Warburg/genética , Sequenciamento do Exoma/métodos
11.
Brain Dev ; 39(10): 861-868, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28578814

RESUMO

BACKGROUND: One of the main complications in patients with muscular dystrophies is cardiac dysfunction. The literature on cardiac involvement in patients with Fukuyama congenital muscular dystrophy (FCMD) is limited. AIM: To compare cardiac involvement between patients with FCMD and Duchenne muscular dystrophy (DMD). METHODS: We compared cardiac involvement between 30 patients with FCMD and 181 patients with DMD using echocardiography and serum biomarkers. All patients were receiving regular checkups at Kobe University Hospital. We used single regression analysis to compare echocardiographic parameters, age, and serum biomarkers. RESULTS: Almost all clinical and echocardiographic parameters were lower in patients with FCMD than DMD. The brain natriuretic peptide concentration in patients with FCMD showed no correlation with age or left ventricular ejection fraction (r=0.231, p=0.22 and r=0.058, p=0.76, respectively). A log-rank test revealed that the risk of left ventricular systolic dysfunction was lower in patients with FCMD than DMD (p=0.046, hazard ratio=0.348). CONCLUSION: The clinical progression of cardiac dysfunction is significantly milder in patients with FCMD than DMD, while skeletal muscle involvement is significantly worse in patients with FCMD. These data suggest that the pathophysiological findings of FCMD can be explained by less severe cardiac dysfunction in FCMD than DMD.


Assuntos
Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/fisiopatologia , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/fisiopatologia , Adolescente , Biomarcadores/sangue , Criança , Ecocardiografia/métodos , Feminino , Coração/fisiopatologia , Insuficiência Cardíaca , Humanos , Masculino , Músculo Esquelético/fisiologia , Peptídeos Natriuréticos/análise , Peptídeos Natriuréticos/sangue , Função Ventricular Esquerda/fisiologia
13.
BMC Pediatr ; 17(1): 73, 2017 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-28292283

RESUMO

BACKGROUND: Long-term treatment with antibiotics containing pivalic acid may decrease serum carnitine concentration and can sometimes be associated with severe hypoglycemia and encephalopathy in infants. Little has been reported, however, on severe hypocarnitinemia induced by acute administration in older children. CASE PRESENTATION: We describe a 6-year-old Japanese girl with Fukuyama-type congenital muscular dystrophy who lost consciousness after 3 days of treatment with an antibiotic containing pivalic acid (cefditoren pivoxil). Investigations at the onset of unconsciousness revealed hypoglycemia (free plasma glucose concentration: 31 mg/dL) and hypocarnitinemia (serum free carnitine concentration: 6.2 µmol/L). Intravenous administration of glucose rapidly improved her symptoms without any complications. Serum free carnitine concentration was 29.0 µmol/L immediately prior to the initiation of cefditoren pivoxil. Computed tomography scanning showed severe peripheral skeletal muscle atrophy, indicating the likelihood of decreased carnitine stores in skeletal muscle. CONCLUSIONS: Although serum carnitine concentration can appear deceptively normal, skeletal muscle carnitine stores can be reduced in patients with severe muscular atrophy. Even a short course of a pivalate-containing antibiotic can lead to life-threatening hypocarnitinemia in older children with severe muscular dystrophy.


Assuntos
Antibacterianos/efeitos adversos , Carnitina/deficiência , Cefalosporinas/efeitos adversos , Hipoglicemia/etiologia , Faringite/tratamento farmacológico , Síndrome de Walker-Warburg/complicações , Antibacterianos/uso terapêutico , Biomarcadores/sangue , Carnitina/sangue , Cefalosporinas/uso terapêutico , Criança , Feminino , Humanos , Hipoglicemia/diagnóstico , Faringite/complicações , Síndrome de Walker-Warburg/sangue
14.
Brain Dev ; 39(7): 613-616, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28318781

RESUMO

Many studies have evaluated surgical treatments for spinal deformities in patients with neuromuscular disease. However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD). A 13-year-old boy with FCMD was unable to sit for long periods or sleep in the supine position because of progressive scoliosis. His Cobb angle worsened from 27° to 41° in 5months. He underwent standard posterior spinal fusion and pedicle-screw-alone fixation from T5 to S1. Postoperatively, his Cobb angle improved from 41° to 25° without exacerbation for 2years. After the surgery, he was able to sit for longer periods without pain, and he and his family were satisfied with the efficacy of the spinal fusion. Some patients with mild FCMD can sit at the age of puberty, but progression to scoliosis is possible. Therefore, spinal fusion for progressive scoliosis in patients with FCMD should be considered.


Assuntos
Escoliose/complicações , Escoliose/cirurgia , Fusão Vertebral , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/cirurgia , Adolescente , Humanos , Masculino , Escoliose/diagnóstico por imagem , Síndrome de Walker-Warburg/diagnóstico por imagem
15.
Neuromuscul Disord ; 27(1): 45-49, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27818010

RESUMO

Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and mental retardation associated with cortical migration defects, and most patients are never able to walk. To date, the development of a quantitative motor scale for FMCD has been difficult due to the moderate-to-severe intellectual impairment that accompanies FCMD. Gross motor function measure (GMFM), originally developed as a quantitative motor scale for cerebral palsy, can precisely and quantitatively assess motor function without complicated instructions, and was recently reported to be useful in the assessment of Down syndrome and spinal muscular atrophy. To confirm the validity of GMFM for the assessment of FCMD, 41 FCMD patients (age range: 0.6-24.4 years) were recruited for this study. The GMFM scores correlated significantly with those of two previously used motor scales, and the time-dependent change in GMFM scores was consistent with the natural course of FCMD. The inter-rater reliability, based on determinations made by four physiotherapists blinded to each other's assessment results, was excellent. We concluded GMFM to be a useful and valid measure of motor function in FCMD patients.


Assuntos
Transtornos dos Movimentos/diagnóstico , Índice de Gravidade de Doença , Síndrome de Walker-Warburg/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Transtornos dos Movimentos/etiologia , Reprodutibilidade dos Testes , Síndrome de Walker-Warburg/complicações , Adulto Jovem
17.
Masui ; 63(6): 650-3, 2014 Jun.
Artigo em Japonês | MEDLINE | ID: mdl-24979856

RESUMO

We described the anesthetic management of a 17-year-old male patient with Fukuyama congenital muscle dystrophy (FCMD) who underwent surgical repair for scoliosis under total intravenous anesthesia. The patient had severe constructive lung disease (%VC 18.6%). Left ventricular wall motion was reduced (left ventricular ejection fraction 40%). Propofol and remifentanil were continuously infused to maintain anesthesia, but we did not use any muscle relaxant throughout the course. We used arterial pressure-based cardiac output and stroke volume variation as a guide for circulatory management. We could not find any congestion on chest X-ray after the surgery. The emergence and recovery from the anesthesia was rapid and muscle strength was enough, and we could extubate the patient just after the end of the surgery. No respiratory and cardiac complications occurred during the postoperative period. Even though he was in the young age in FCMD, respiratory and cardiac complications were severely impaired. For successful anesthetic management in FCMD patient, we should take care of rapid emergence from anesthesia and also we should not impair muscle strength for good postoperative respiratory function. Appropriate hemodynamic monitoring to avoid postoperative cardiac congestion is also required.


Assuntos
Anestesia Intravenosa , Pneumopatias Obstrutivas/complicações , Escoliose/cirurgia , Disfunção Ventricular Esquerda/complicações , Síndrome de Walker-Warburg/cirurgia , Adolescente , Humanos , Masculino , Monitorização Intraoperatória , Assistência Perioperatória , Piperidinas , Propofol , Remifentanil , Escoliose/complicações , Volume Sistólico , Disfunção Ventricular Esquerda/fisiopatologia , Síndrome de Walker-Warburg/complicações
18.
J Child Neurol ; 29(7): 977-9, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23594821

RESUMO

Patients with Fukuyama-type congenital muscular dystrophy sometimes experience transient exacerbations of muscle weakness. We took care of a 9-year-old boy with Fukuyama-type congenital muscular dystrophy who presented with acute respiratory failure and decreased exercise ability with marked elevation of serum creatine kinase indicating rhabdomyolysis. At that time, his younger sister suffered from erythema infectiosum. Although he had no particular symptoms, he was tested and proven to have acute human parvovirus B19 infection based on detection of anti-B19 IgM and parvovirus B19 DNA in his serum. His acute rhabdomyolysis was possibly triggered by human parvovirus B19 infection.


Assuntos
Infecções por Parvoviridae/complicações , Parvovirus B19 Humano/patogenicidade , Rabdomiólise/complicações , Síndrome de Walker-Warburg/complicações , Criança , Feminino , Humanos , Síndrome de Walker-Warburg/virologia
19.
Brain Dev ; 36(8): 730-3, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24113355

RESUMO

We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17 months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I+II deficiency has rarely been reported, suggesting a nuclear gene mutation.


Assuntos
Doença de Leigh/complicações , Doença de Leigh/diagnóstico , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/diagnóstico , Encéfalo/patologia , Humanos , Recém-Nascido , Doença de Leigh/patologia , Imageamento por Ressonância Magnética , Masculino , Síndrome de Walker-Warburg/metabolismo , Síndrome de Walker-Warburg/patologia
20.
Eur J Hum Genet ; 22(4): 486-91, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24002165

RESUMO

Dystroglycanopathies are a genetically heterogeneous subset of congenital muscular dystrophies that exhibit autosomal recessive inheritance and are characterized by abnormal glycosylation of α-dystroglycan. In particular, POMT2 (protein O-mannosyltransferase-2) mutations have been identified in congenital muscular dystrophy patients with a wide range of clinical involvement, ranging from the severe muscle-eye-brain disease and Walker-Warburg syndrome to limb girdle muscular dystrophy without structural brain or ocular involvement. Cardiovascular disease is thought to be uncommon in congenital muscular dystrophy, with rare reports of cardiac involvement. We describe three brothers aged 21, 19, and 17 years with an apparently homozygous POMT2 mutation who all presented with congenital muscular dystrophy, intellectual disabilities, and distinct cardiac abnormalities. All three brothers were homozygous for a p.Tyr666Cys missense mutation in exon 19 of the POMT2 gene. On screening echocardiograms, all siblings demonstrated significant dilatation of the aortic root and depressed left ventricular systolic function and/or left ventricular wall motion abnormalities. Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function. On the basis of our findings, we suggest patients with POMT2 gene mutations be screened not only for myocardial dysfunction but also for aortopathy. In addition, given the potential for progression of myocardial dysfunction and/or aortic dilatation, longitudinal surveillance imaging is recommended both for patients with disease as well as those that have normal baseline imaging.


Assuntos
Doenças Cardiovasculares/genética , Manosiltransferases/genética , Mutação de Sentido Incorreto , Irmãos , Síndrome de Walker-Warburg/genética , Adolescente , Doenças Cardiovasculares/complicações , Distroglicanas/genética , Éxons , Glicosilação , Homozigoto , Humanos , Deficiência Intelectual/genética , Masculino , Fenótipo , Síndrome de Walker-Warburg/complicações , Síndrome de Walker-Warburg/diagnóstico , Adulto Jovem
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