Diabetes mellitus and birth defects

Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes.

Thirty-three children and one adult with sacral agenesis (SA) were studied by computed tomographic myelography and/or magnetic resonance imaging and were monitored for a mean period of 4.7 years. Four children had the OEIS (concurrent omphalocele, cloacal exstrophy, imperforate anus, and spinal deformities) complex, and three others had VATER (vertebral abnormality, anal imperforation, tracheoesophageal fistula, and renal-radial anomalies) syndrome. All patients shared some of the characteristic features of SA, namely, a short, intergluteal cleft, flattened buttocks, narrow hips, distal leg atrophy, and talipes deformities. Neurologically, lumbosacral sensation was much better preserved than the motor functions, and urinary and bowel symptoms were universal. The level of the vertebral aplasia was correlated with the motor but not with the sensory level. The important neuroimaging findings of SA were as follows: 1) 12 patients (35%) had nonstenotic, tapered narrowing of the caudal bony canal, and 2 patients had hyperostosis indenting the caudal thecal sac; 2) 16 patients (47%) had nonstenotic, tapered narrowing and shortening of the dural sac, but 3 patients (9%) had true, symptomatic dural stenosis, in which the cauda equina was severely constricted by a pencil-sized caudal dural sac; 3) the coni could be divided into those ending above the L1 vertebral body (Group 1, 14 patients) and those ending below L1 (Group 2, 20 patients). Thirteen of 14 Group 1 coni were club or wedge-shaped, terminating abruptly at T11 or T12, as if the normal tip was missing. All 20 Group 2 coni were tethered: 13 were tethered by a thick filum; 2 were extremely elongated and had a terminal hydromyelia; 3 were terminal myelocystoceles; and 2 were tethered by a transitional lipoma. High blunt coni were highly correlated with high (severe) sacral malformations (sacrum ending at S1), but low-lying tethered coni were highly correlated with low sacral malformations (S2 or lower pieces present).(ABSTRACT TRUNCATED AT 400 WORDS)

Sacral agenesis and caudal spinal cord malformations.

Holoprosencephaly in infants of diabetic mothers

According to the classification of Osathanondh and Potter of cystic kidneys we give an overview of the different types of cystic changes taking genetic aspects into account. Usually pathoanatomic types do not represent genetic entities: All type I kidneys are transmitted in an autosomal recessive way with varying clinical symptoms; in rare cases they even present in adults. The relationship to "congenital hepatic fibrosis", "cystic liver", and to the "Caroli syndrome" is discussed. Type II kidneys are usually not genetic in origin; but they may occur as part of several syndromes. Rarely genetic factors might contribute to type II kidneys that may present as familial cases of Potter syndrome ("renal non-function syndrome"). Type IV kidneys, although different in their pathoanatomic picture can be regarded according to a common pathogenetic theory as part of the spectrum of malformations as in type II. Therefore the genetic interpretation of type II kidneys also applies to type IV lesions. Type III kidneys include autosomal dominant polycystic kidney disease. This type may already present in childhood; the first prenatal diagnosis by ultrasonography is described in detail. Furthermore type III changes are part of syndromes or non-hereditary malformation complexes, and often present only as mild manifestations. Diseases with isolated involvement of the medulla (juvenile nephronophthisis/medullary cystic disease) or cortex are described as part of the differential diagnosis, they are heterogeneous and genetically only partly understood. Syndromes with cystic kidneys are reviewed as well as the possibilities of prenatal diagnosis of cystic diseases. Reliable prenatal diagnosis is only possible in type II, and possible in some of the other types. The nosology is improved if genetic information is taken into account.

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis

Skeletal anomalies of the lower extremities and lower spine have been observed in infants of diabetic mothers. Forty-three such cases have been collected from the literature. Maternal diabetes may play a role in the etiology of these malformations.

Widukind Lenz

Papers

Syndrome of caudal regression in infants of diabetic mothers: observations of further cases.