Because tetrahydrobiopterin (BH4) deficiency may cause a severe but treatable disease, it became necessary to develop selective screening tests for detection early in infancy. Every newborn with even slight but persistent hyperphenylalaninemia (HPA) should be tested for BH4 deficiency. Such tests have been introduced in many developed countries, but even today older children are invariably dete...

Many controversies exist regarding the practicality, the theoretical premises, and the supporting evidence for the use of casts in the management of joint hypomobility and hypertonia (ie, increase in joint resistance to passive movement resulting from hyperactivity of the stretch reflex and/or changes in the muscles and connective tissues). The purpose of this review was to determine current be...

A 6-year-old girl suddenly developed a loss of conciousness episode with head deviation to the left, generalized hypertonia, and clonic movements when waking up. Then, she presented vomit and bladder sphincter incontinence. Therefore, the Panayiotopoulos syndrome was suspected. Brain magnetic resonance imaging (MRI) was normal. The electroencephalography (EEG) performed after 48 hours of the ep...

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RC...

BACKGROUND Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associa...

Introduction: The neurological sequelae are result from the brain damages occasioned by pathologies that affect central nervous system and/or peripheral resulting in malfunction, limitations and physical cognitive incapacities. Among sequels found muscle weakness, hypertonia, hypotonia, limited range of motion, difficulty transferring walking, sensory loss, incoordination postural instability. ...

Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism. The youngest boy also had congenital bilateral cataract. Magnetic resonance imaging of the brain showed evidence of dysmyelination. Plasma serine as well as plasma and cerebrospinal fl...

Dr. William Little originally described cerebral palsy (CP) in 1861, during a presentation to the Obstetric Society in London (1). It was known at this time eponymously as “Little’s Disease.” In 1889, Dr. William Osler coined the term cerebral palsy, and described the types of CP. CP is defi ned as a group of nonprogressive disorders involving development of posture and movement (2). Changes in...