An Infant Case of Pallister-Hall Syndrome Treated with Hormone Replacement.

Abstract

Abstract. Pallister-Hall syndrome was first described by Hall et al. in 1980. This syndrome is characterized by hypothalamic hamartoblastoma, hypopituitarism, polydactyly, imperforate anus and other anomalies. We report a case of a male infant with hypothalamic tumor, hypopituitarism, dysplastic metacarpals, micropenis and remarkable hypoglycemia. He has been treated with hydrocortisone, thyroid hormone, NaCl, fludrocortisone acetate and GH. He has grown well on this therapy. Key words:Pallister-Hall syndrome, hypothalamic hamartoblastoma, hypopituitarism, dysplastic metacarpals, micropenis Case ReportA male infant was born normally after 40 weeks gestation with birth weight 3298 g, length 51.0 cm, and head circumference 35.0 cm. He was the second child of unrelated parents. At birth he was noted to have micropenis. After observation for several hours, cyanosis became apparent, and he was transferred to our hospital. On admission his vital signs were temperature 36.4°C, pulse rate 167/min, respiration rate 58/min, blood pressure 38/20 mmHg and SpO 2 90%. He was in impending shock. The results of blood gas analysis on admission (venous blood) were as follows; pH 7.112, PCO 2 85.6 mmHg, BE -2 mmol/L, HCO 3 27 mmol/L. Furthermore his blood sugar level was 1 mg/dl. The pr esen ce of microp enis a nd remarkable hypoglycemia suggested pituitary hormone deficiencies, and he was treated with intravenously administered hydrocortisone sodium phosphate immediately. The results of endocrin ologi cal examin ati on indi cate d hypopituitarism (Table 1). Other congenital anomalies were noted including flat nasal bridge, bifid scrotum, and stoppage spermary. Head MRI documented a hypothalamic mass. He was transferred to the Children's Hospital of Nagano at age 2.5 months for further evaluation. X-rays of the left hand showed four metacarpals, and adhesion of the third and the fourth metacarpus was recognized. X-ray of both hands at six months is shown in Fig. 1. Heart deformity was not noticed in UCG, and abnormalities of abdominal organ, kidney and bladder were not found. Head MRI showed the absence of the anterior pituitary gland and a hypothalamic mass lesion. The tumor was 3 cm in diameter and was recognized in the suprasellar area. It showed a signal like normal b ra i n s u b s t a n t i a a l b a w i t h o u t c o n t ra s t

Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature

“…Patient 2 was a 10‐year‐old boy at the time of evaluation and of Japanese descent. Part of his medical history was described previously [Shimizu et al, 2002]. He was born at 40 weeks of gestation as the second child of healthy nonconsanguineous parents after an uneventful pregnancy.…”

Pallister–Hall syndrome with orofacial narrowing and tethered cord: a case report

“…Hypothalamic hamartoblastoma is characterized by a protrusion of the third cerebral ventricle, displacement of the optic tract, interruption of the pituitary stalk, and hypoplasia of the pituitary gland. Other reported abnormalities associated with PHS include colonic aganglionosis [ 6 ], epilepsy [ 7 ], hypopituitarism [ 8 ], congenital cardiac defects [ 9 ], and adrenal abnormalities [ 10 ]. We report the case of a male patient with PHS showing new associated features.…”