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...

Congenital Hypothyroidism (CH) is a common preventable cause of mental retardation. The incidence CH 1 in 2500 to 3000 newborns. Most causes are thyroid dysgenesis and dyshormonogenesis. Some disorder like maternal autoantibodies, intake anti medication, iodine deficiency or excess can result transient CH. Common symptoms include decreased activity increased sleep, feeding difficulty, constipat...

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...

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...

Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features...

Introduction: Sodium leak channel, non-selective (NALCN) is an ion channel with important function in neuronal excitability. The activity of NALCN essential the balance rhythmic behaviors. Infantile hypotonia psychomotor retardation and characteristic facies 1 (IHPRF1), which occurs due to biallelic variants, leads dysmorphic characteristics global developmental delay. We hereby report 2 non-re...