We report a patient with a form of arthrogryposis multiplex congenita who developed seizures at 4 months of age that proved to be hypoglycemic. Further evaluation of the etiology of hypoglycemia led to the discovery of partial anterior hypopituitarism, with normal posterior pituitary function. Neuroimaging revealed an ectopic neurohypophysis with very small anterior pituitary, the presumed anatomic basis for his endocrine dysfunction. A chance association between the pituitary ectopia and the arthrogryposis cannot be ruled out. However, it is more likely that in the present patient a common genetic mechanism may be the basis for both the arthrogryposis and the pituitary dysfunction.
Key words
Arthrogryposis - Pituitary gland - Hypopituitarism - Cholestasis - MRI
References
-
1
Bamshad M, Jorde L, Carey J.
A revised and extended classification of the distal arthrogryposes.
Am J Med Genet.
1996;
65
277-281
-
2
Chitayat D, Hall J, Couch R, Phang M, Baldwin V.
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.
Am J Med Genet.
1990;
37
65-70
-
3
Choo-Kang L, Sun C, Counts D.
Cholestasis and hypoglycemia: manifestations of congenital anterior hypopituitarism.
J Clin Endocrinol Metab.
1996;
81
2786-2789
-
4
Di R M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C.
Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.
Eur J Pediatr.
1995;
154
835-839
-
5
Ellaway C, Silinik M, Cowell C. et al .
Cholestatic jaundice and congenital hypopituitarism.
J Paediatr Child Health.
1995;
31
51-53
-
6
Fedrizzi E, Botteon G, Inverno M, Ciceri E, D'Incerti L, Dworzak F.
Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings.
Pediatr Neurol.
1993;
9
343-348
-
7
Hall J.
Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects (see comments).
J Pediatr Orthop [B].
1997;
6
159-166
-
8
Hall J.
Arthrogryposis.
Am Fam Physician.
1989;
39
113-119
-
9
Hall J.
Genetic aspects of arthrogryposis.
Clin Orthop.
1985;
144
44-53
-
10
Hall J, Reed S, Scott C, Rogers J, Jones K, Camarano A.
Three distinct types of X-linked arthrogryposis seen in 6 families.
Clin Genet.
1982;
21
81-97
-
11
Krähe J, Hauffa B P, Wollmann H A, Käser H.
Transient elevation of urinary catecholamine excretion and cholestatic liver disease in a neonate with hypopituitarism.
J Pediatr Gastroenterol Nutr.
1992;
14
153-159
-
12
Petrus M, Rhabbour M, Clouzeau J, Bat P, Bildtein G, Ibanez M H. et al .
Association of Moebius syndrome and hypopituitarism due to a midline anomaly. A case report.
Ann Pediatr.
1993;
40
376-378
M. D. Enrico Parano
Divisione di Neurologia Pediatrica
Clinica Pediatrica
Università di Catania
Viale Andrea Doria 6
95125 Catania
Italy
eMail: parano@mbox.unict.it
