Rare Diseases Symptoms Automatic Extraction

Sonographic diagnosis of congenital brain malformations: the Ilorin experience.

[hydrocephalus with stenosis of the aqueduct of sylvius]

A retrospective study was done to determine the incidence of congenital malformation of the brain among African infants over a 5 year period. Transfontanelle ultrasound (US) was performed on 98 infants consisting of 45 males and 53 females. The mean age was 2.6 months (range 1-11 months). Congenital malformation was present in 25.5% of the 98 cases studied, most of which were associated with hydrocephalus. Cerebral aqueduct stenosis was the commonest congenital anomaly encountered and was found in 24% of case. This study shows that transfontanelle US is a useful tool for diagnosis of congenital brain malformations in infants.

Diseases presenting "hydrocephalus" symptom

  • achondroplasia
  • alexander disease
  • canavan disease
  • congenital toxoplasmosis
  • harlequin ichthyosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • monosomy 21
  • proteus syndrome
  • severe combined immunodeficiency
  • sneddon syndrome
  • von hippel-lindau disease
  • wiskott-aldrich syndrome

This symptom has already been validated