Background Systemic carnitine deficiency may present with apnea, hypotonia, and poor growth. Premature infants often manifest these symptoms and are at risk of developing carnitine deficiency because of immaturity of the biosynthetic pathway, lack of sufficient predelivery transplacental transport, and lack of sufficient exogenous supplementation. Objective This study was undertaken to examine ...

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pr...

Case presentation: Patient was the first child of non-consanguineous parents whose father healthy, but mother had mild intellectual deficiency and spastic paraparethic gait that been attributed to cerebral palsy. At birth he presented congenital talipes equinovarus. He began crawl at 1yo never able walk independently despite orthopedic feet correction. 1yo, leukocoria in left eye noticed. Bilat...

Case presentation: Full-term newborn with reduced fetal movements during pregnancy, elective cesarean section, first child of a non-consanguineous couple no family history neurological disease. Apgar 5–5, severe respiratory distress, cyanosis and cardiorespiratory arrest. He required cardiopulmonary resuscitation mechanical ventilation, persisting hypotonia. On examination, facial hypomimia car...

This article postulates that movement and action control are the underpinning of executive functioning. We selectively examine brain regions that have traditionally been almost exclusively understood as critical to the control and expression of movement-namely, the basal ganglia and the cerebellum. We first describe the relationship between movement and cognition. This is followed by a review o...

Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, t...

BACKGROUND Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients' survival is improved to a noticeable extent. OBJECTIVES The purpose of this study is to examine t...