Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents

We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of th...

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Bibliographic Details
Published in:Journal of medical genetics 1997-03, Vol.34 (3), p.256-260
Main Authors: Ruggieri, M, Carbonara, C, Magro, G, Migone, N, Grasso, S, Tinè, A, Pavone, L, Gomez, M R
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
Consanguinity
Female
Genetic Linkage
Heart Neoplasms - pathology
Humans
Infant, Newborn
Kidney - pathology
Liver - pathology
Male
Medical sciences
Neurology
Nuclear Family
Pedigree
Rhabdomyoma - pathology
Tuberous Sclerosis - genetics
Tuberous Sclerosis - pathology
Tumors of the nervous system. Phacomatoses
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Summary:We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of them and showed the typical findings of tuberous sclerosis complex (TSC) in the central nervous system (CNS), kidneys, heart, and liver. The fourth sib, currently 2 years old, also has typical signs of TSC, namely hypomelanotic skin macules and calcified subependymal nodules. Both parents and a living maternal grandmother had appropriate examination, which included skin inspection under Wood's lamp, dental examination, fundoscopy, echocardiography, abdominal and renal ultrasound, and head CT and MRI scans, and no signs of TSC were found in either parent or in the only living grandmother. By history alone there is no other relative with signs or symptoms suggestive of TSC. Linkage analysis and loss of heterozygosity (LOH) investigations on a variety of lesions obtained from postmortem and tissue or blood specimens from all available family members studied failed to identify a microdeletion in the chromosomal regions where TSC genes are located. It is very unusual that in a single TSC family there were three consecutive neonatal deaths, and very likely that all had cardiac rhabdomyomas. Moreover, to the best of our knowledge, there are no previous reports of TSC families with more than one affected sib, unusually severe manifestations of the disease, and completely normal, consanguineous parents.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.34.3.256