X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive cl...

BACKGROUND Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. CASE REPORT We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in...

An infant with neonatal adrenoleukodystrophy experienced extreme hypotonia and virtually continuous convulsions at four months of age and died. Light and electron microscopic examination revealed evidence of myopathy and the presence of mitochondrial inclusions. Concentrations of very long-chain fatty acids were elevated in blood and fibroblasts and the oxidation of 14C-labeled fatty acids was ...

Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal dystrophy and loss of visual function. Additional features were biochemical evidence of purine overproduction and liver dysfunction. Post mortem, the neuropathological findings in both children were t...

objective prader-willi syndrome (pws) is a genetic syndrome presenting with severe hypotonia and decreased agility. growth hormone (gh), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. the aim of this study was to find the effects of growth hormone on agility and strength of thes...

Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newbo...

  Introduction: Early differentiation of biliary atresia from neonatal hepatitis is of utmost importance, since on time surgery of biliary atresia significantly improves the outcome. Hepatobiliary scintigraphy is an integral part of diagnosis work-up of these patients; however its specificity for diagnosis of biliary atresia is suboptimal. In this study we evaluated t...

Case presentation: Male patient, 11 years of age, referred to the service at 1 old, due developmental delay and hypotonia. At birth, presented with difficulty in feeding, 6 months hypotonia was identified. Sat old currently walks assistance, is able speak monosyllabic words tonic syllables, grabs objects difficulty. Electroneuromyography, cranial magnetic resonance, autoimmune tests, urine orga...

Case presentation: Patient A.S.P, male, two years old, started with fever on June 2021 associated others viral symptoms. Three days after, he was admitted the pediatric emergency room hypotonia of trunk and limbs. He also referred pain paresis mainly in lower Transferred to intensive care unit evolved dysphagia worsening motor condition, maintaining only eye movement. required a nasoenteric tub...