A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome).
We report on three infants with hand anomalies and congenital hypopituitarism. In two of the cases, a hypothalamic tumor was found; the third infant died without postmortem brain studies. Family history in the first case suggested possible familial recurrence; the mother's sister had died at 17 hr of age with polydactyly, microglossia, and flat nasal bridge (no autopsy done). Our second case was born by cesarean section after a pregnancy complicated by extremely low maternal estriols. At birth, hypopituitarism was diagnosed, a cranial CT scan was read as normal, and hormonal replacement was begun with thyroxine, hydrocortisone, and growth hormone. At 11.5 mo of age she developed seizures; and a repeat CT scan showed a mass extending beneath the hypothalamus. This tumor was removed surgically at 12 mo, the first successful treatment of this disorder. Our third possible case had a bifid epiglottis, hypopituitarism, and hand anomalies. A CT scan at birth failed to reveal a mass in the hypothalamus. This child died from complications of untreated hypopituitarism, and no neuropathology studies were done. These three cases were conceived between March 10th and April 17th in three different years in three geographically contiguous counties of Vermont. Clustering in time and space and possible familial recurrence, in one of these cases, suggest a possible gene/environment interaction.
Graham
J M
JM
Department of Maternal and Child Health, Dartmouth Hitchcock Medical Center, Hanover, New Hampshire 03756.
Saunders
R
R
Fratkin
J
J
Spiegel
P
P
Harris
M
M
Klein
R Z
RZ
D000015:Abnormalities, Multiple; D005260:Female; D006222:Hamartoma / Q000151:congenital* / Q000453:epidemiology / Q000601:surgery; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000151:congenital* / Q000453:epidemiology / Q000601:surgery; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome