Case Report - Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst

  • RA Abolila
  • RM Alsawan
  • MT Alrefaie

Abstract

We are reporting a very rare case of primordial dwarfism associated with lissencephaly and brain cyst, in a full term (37 weeks) girl, who had extreme low birth weight (580 g), delivered vaginally with good APGAR score (6 and 7) at 1 and 5 min, respectively. The mother was healthy, para 0+ 1, 20 years old, had previous abortion and had no risk factors for severe intra uterine growth retardation (IUGR). Parents were non consanguineous. Although the baby had extreme low birth weight (ELBW) she did not need any ventilatory support till discharge from the hospital and was discharged home sucking well with weight on discharge 1.2 kg. The baby had typical features of primordial dwarfism MOPD type I and to our knowledge this is the first time to report such a rare case from Kuwait. Also the patient had lissencephaly and brain cyst which were not reported previously.

Keywords: MOPD III; Lissencephaly; Brain cyst; Primordial dwarfism; Extreme low birth weight; MOPD I; MOPD II

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eISSN: 1110-8630