A 5 year old female child from a well-monitored, full term pregnancy with no specific history of ataxia, hypotonia and global developmental delay.

Numerous genetic syndromes present with hypotonia during the neonatal period, including Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy, congenital muscular dystrophies, nemaline myopathy, congenital hypomyelinating neuropathy, congenital disorders of glycosylation, and Pompe disease. This article reviews neonatal presentations and appropriate diagnostic tests and examination...

BACKGROUND Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multiple age groups including infancy, childhood and adulthood. CASE REPORT We present a case of infa...

BACKGROUND Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS Three patients are repor...

BACKGROUND Classic Pelizaeus-Merzbacher disease is a rare x-linked disorder of proteolipid protein expression first described clinically in 1885. This disease is characterized by abnormal eye movements, very slow motor development and involuntary movements. The causative gene is PLP1. CASE PRESENTATION A 1-year-old boy was referred to our clinic due to abnormal eye movements. He had horizonta...

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...