We describe a previously unreported syndrome characterized by secondary (post-natal)
microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, …

Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal
recessive neurometabolic disorder mostly presented in children. The disorder is described as …

The clinical and radiographic findings of 68 children and adolescents with nontraumatic
intraparenchymal brain hemorrhage were analyzed retrospectively. There were 43 boys and 25 …

Background Guillain-Barré syndrome (GBS) is a progressive acute form of paralysis most
probably secondary to an immune-mediated process. GBS among Saudis has been seldom …

Background X-linked ichthyosis is a dermatological condition caused by deficiency for the
enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been …

Periventricular leukomalacia, a major cause of neurologic disabilities in preterm infants, can
be isolated or associated with intraventricular and periventricular hemorrhage. To determine …

Background Neurofibromatosis type 1 (NF1) is a complex disorder. Genetics and environment
might be attributed as the leading cause of NF1, which is characterized by multisystemic …

Objective We compared the neurological outcome of isolated periventricular leukomalacia
and severe intraventricular hemorrhage in a cohort of very low birth weight infants born and …

PURPOSE: Achromatopsia is a rare stationary retinal disorder that primarily affects the cone
photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, …

Background Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first
described in 1968 and characterized by microcephaly and infantile onset of central nervous …