Rare Diseases Symptoms Automatic Extraction

Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.

[achondroplasia]

We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary junction and thus predispose to acute hydrocephalus. Although our patient was initially asymptomatic, hydrocephalus ensued several weeks after birth and required cerebral spinal fluid diversion. We discuss the potential links between the two conditions, the pathophysiology, and the important clinical implications for the management of the increased risk of hydrocephalus.

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