X-Linked Hydrocephalus, with Aqueductal Stenosis, Mental Retardation, and Adduction-Flexion Deformity of the Thumbs

Abstract

A new family is reported of a Bickers-Adams-Edwards syndrome. This family has been studied up to three generations. Two female carriers are known. Among the six male children who are affected, four are severely mentally retarded, have spasticity of the legs, and survived with a mild macrocephaly, and two show a more severe and rapid progression of head enlargement. A partial aqueductal stenosis, with remarkable ventricular dilatation, has been demonstrated by pneumoencephalography in three boys. A deformity of the thumbs links these six children together. One of them has been treated by a ventriculoperitoneal shunt, when 18 months old, without any improvement in the neurological condition. The mental deficiency is much more severe than could be expected from the degree of hydrocephalus, at least as estimated clinically by the macrocephaly. Hydrocephalus is precocious, and the ventricular dilatation very advanced when seen by PEG studies. Recognition of the female carriers is not possible.

Epidemiology of congenital hydrocephalus in Utah, 1940–1979: Report of an iatrogenically related “epidemic”

“…Some studies have found a sex ratio similar to that of all births [Czeizel and Revesz, 1970;Halevi, 1967;Hay, 1971a;Ivy, 19631. The excess of males has been thought t o be the result of X-linked patterns of inheritance [Milhorat, 19721. X-linked patterns of inheritance of CH have been reported by many authors [Bickers and Adams, 1949;Edwards, 1961;Edwards et al, 1961;Faivre et al, 1976;Habib, 1979;Jansen, 1975;Landrieu et al, 1979;Needleman and Root, 1963;Price and Home, 1968;Shannon and Nadler, 1968;Sovik et al, 1977;Warren et al, 19631. An editorial in the British Medical Journal 119621 stated that the X-linked form of CH may account for 2% of all cases of isolated CH. A "soft" physical finding (the cortical thumb sign) was used to make this estimate of 2%.…”

Prenantal diagnosis of X‐linked hydrocephaly

“…Bickers and Adams (1949) suggested a sex-linked recessive mode of inheritance in some case of congenital hydrocephaly associated with aqueductal stenosis. Subsequently, a number of families was reported with this condition (Shannon and Nadler, 1968;Holmes et al, 1973;Faivre et al, 1976;Cassie and Boon, 1977;Sravik et al, 1977;Habib, 1979). Observations both in animal experiments (Masters et al, 1977) and in man (McMillan and Williams, 1977) suggest that stenosis of the aqueduct may develop secondary to communicating hydrocephaly.…”

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

“…We reviewed the clinical data on 13 families, previously reported as having MASA syndrome; there was a total of 98 patients [Bianchine and Lewis, 1974;Yeatman, 1984;Gareis and Mason, 1984;Kenwrick et al, 1986;Winter et al, 1989 (additional data on this family in Willems et al, 1990);Schrander-Stumpel et al, 1990;Rietschel et al, 1991;Fryns et al, 1991Fryns et al, , 1992Straussberg et al, 1991;Macias et al, 1992;Kaepernick et al, 1994;Boyd et al, 19931. In most reported families with HSAS, patients die during pregnancy (partly due to induced labour after prenatal diagnosis), during or shortly after birth, or after some weeks or months. We were able to review 25 HSAS families with data on 70 patients with survival beyond 1 year (out of a total of 145 affected patients) [Borle, 1953;Klein, 1954;Edwards, 1961;Needleman and Root, 1963;Shannon and Nadler, 1965;Sajid and Copple, 1968; Martin et al, 1971;Fried, 1972;Jansen, 1975;Viseskul et al, 1975;Faivre et al, 1976;Holtzman et al, 1976;Landrieu et al, 1979;Willems et al, 1987;Varadi et al, 1987;Kelley et al, 1988;Serville et al, 19921. Within the total of 145 affected male patients, ll cases of prenatal diagnosis of an affected male fetus with termination of the pregnancy were documented [Viseskul et al, 1975;Kelley et al, 1988;Varadi et al, 1987;Serville et al, 19931.…”