Isolated congenital aplasia of the anterior hypophysis and neonatal hypoglycemia. Report of a case with review of the literature
Rebage Moisés, V.; Arnal Alonso, J.M.; Fuertes Fernández-Espinal, J.; Rite Montañés, S.; Used Aznar, M.M.; Ferrández Longás, A.; Marco Tello, A.
Anales Espanoles de Pediatria 25(6): 471-476
1986
ISSN/ISBN: 0302-4342 PMID: 3548513 Document Number: 270642
We describe a female newborn infant who became severely hypoglycaemic (0.73 mg %), cyanosed and collapsed at five hours of age. After this episode she developed new hypoglycaemia and convulsions and did not tolerate short fasting periods. Physical examination revealed macrocephalia (PC 36 cm), prominent frontal bone and flat face. Hormonal tests showed normal insulines, a relative secondary hypothyroidism and GH, ACTH and cortisol deficiencies (GH, 0.15 and 11 ng/ml; cortisol, 3.5 and 2 mg %). The baby died at the age of 3 months after pulmonary aspiration. The findings at necropsy showed a normally developed brain and flat sella turcica with fragments of neurohypophysis without evidence of adenohypophysis and adrenals and thyroid markedly hypoplastic. Diagnosis of this entity as well as cases reported in pediatric literature are reviewed.