Eberhard Passarge

24 Cerebro-Hepato-Renal Syndrome|[period]| A Newly Recognized Familial Disorder

A familial disorder, consisting of congenital abnormalities of the central nervous system, the liver, and kidneys has been observed. The predominant features of the disorder are severe, generalized hypotonia; a characteristic, narrow face with hypertelorism, epicanthic folds, prominent forehead, and open metopic suture; hepatomegly with development of jaundice and hypoprothrombinemia; and cortical renal cysts. Less constant findings include moderately low birth weight, brain maldevelopment, minor skeletal defects, cardiac maldevelopment, and possibly eye and genital anomalies. These children died in infancy.Five sisters with this disorder have been studied and are compared with two similar pairs of sibs reported by BOWEN, LEE, ZELLWEGER and LINDENBERG (Bull. Johns Hopk. Hosp. 114: 402 [1964]) and SMITH, OPITZ and INHORN (J. Pediat. 67: 617 [1965]). The clinical and pathological findings in these 9 patients suggest that this disorder constitutes a clinical entity, for which, in view of the unknown pathogenesis, the descriptive term cerebro-hepato-renal syndrome is proposed. No detectable chromosomal or metabolic abnormality, or an exogenous causative factor has been detected.The 5 affected individuals, of normal, nonconsanguineous parents of Alsacian extraction, had a mean birth weight of 2493 g at 37–40 weeks gestation and died at 4, 2, 14, 1/7 and 20 weeks respectively. They had 8 normal sibs (5 males, 3 females).(Supported in part by U.S.P.H. International Postdoctoral Research Fellowship No. 1-F05-TW-1129–01.) (SPR)

Lehrbuch der Padiatrie.

This is the second edition of a textbook of pediatrics for medical students in East Germany and will be of no interest for pediatricians in this country. However, for those interested in international pediatrics and for some foreign readers a few comments may be of interest. This book, presumably a leading text in the German Democratic Republic, makes disappointing and uninspiring reading. It does cover the basics of pediatrics, but in many respects it must be considered inadequate. Although printed in 1966, almost none of the newer developments and directions in pediatrics have been incorporated into the 1,000-page text. There are plenty of tables and systematic classifications, helpful perhaps for examinations, but of limited practical value. The diagnosis and management of such important disorders, eg, osteomyelitis, bacterial and tuberculous meningitis, or hemolytic disease of the fetus and newborn are described rather vaguely and will not readily be converted into practical