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Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase

Fadi Busaleh1, Haider Alnofaily1, Hussain A Al Ghadeer1

  • 1Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU.

Cureus
|December 29, 2021
PubMed

Insights

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a rare growth disorder. This case report details an infant with MOPDII and glucose-6-phosphate dehydrogenase deficiency anemia in Saudi Arabia.

Area of Science:

  • Genetics and rare diseases
  • Pediatric endocrinology
  • Hematology

Background:

  • Microcephalic primordial dwarfism encompasses rare genetic disorders characterized by severe growth restriction.
  • Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common subtype, yet remains exceptionally rare globally.
  • Existing literature on MOPDII is limited, underscoring the importance of case reports.

Observation:

  • This report describes a unique case of MOPDII in an infant residing in Saudi Arabia.
  • The infant presented with characteristic features of MOPDII, including significant growth restriction.
  • Notably, the infant also exhibited glucose-6-phosphate dehydrogenase deficiency, leading to hemolytic anemia.

Findings:

  • The co-occurrence of MOPDII and glucose-6-phosphate dehydrogenase deficiency anemia in this infant is a significant clinical observation.
  • This presentation expands the known clinical spectrum of MOPDII.
  • The findings highlight the importance of comprehensive genetic and metabolic evaluations in patients with primordial dwarfism.

Implications:

  • This case contributes valuable data to the limited global understanding of MOPDII.
  • It emphasizes the need for increased awareness and reporting of rare genetic conditions in diverse geographical regions.
  • Further research into the potential genetic or clinical links between MOPDII and G6PD deficiency is warranted.
Keywords:
dwarfismglucose-6-phosphate dehydrogenase deficiencyintrauterine growth restrictionmicrocephalic osteodysplastic primordial dwarfism type 2microcephaly

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