A concurrent occurrence of cutis laxa, Dandy‐Walker syndrome and immunodeficiency in a girl

Abstract

We report on a 17‐y‐old girl with inherited cutis laxa, immunodeficiency and Dandy‐Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leucopenia causing increased susceptibility to respiratory tract infections. Dandy‐Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was shown on a CT scan but with the exception of macrocrania, no typical signs or symptoms were observed at the age of 17. Loose hyperextensible skin with pendulous skinfolds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present. Conclusion: The combination of the rare disorders cutis laxa, Dandy‐Walker syndrome and immunodeficiency is reported here for the first time.

An unusual combination: Aortic arch coarctation associated with Dandy–Walker variant

“…The association of the aortic arch coarctation with these kind of cerebral anomalies is extremely rare. Some reports have been published in this unusual combination [1][2][3], however, these kind of clinical features were not seen in their reports.…”

Defective protein glycosylation in patients with cutis laxa syndrome

“…9 Patient 5: Patient 5 had a mild intrauterine growth retardation, severe congenital generalized cutis laxa with joint hyperlaxity, psychomotor retardation, hypotonia, epilepsy, transient feeding problems and normal growth after the first year of life. He had no microcephaly or brain malformations (see Table 1).…”

“…7,8,11,13,14 Central nervous system anomalies and ophthalmologic findings are rare findings in ARCL type II. 9,10 So far, the genetic etiology of ARCL type II is not known.…”

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

“…10 Cerebellar malformations were seen in three of our patients, including CVH in one girl and DWM in two others. DWM was previously reported in one child with cutis laxa, 15 but no images of the cerebral cortex or IEF of serum transferrins were presented. Further, DWM and hydrocephalus without the cortical malformation were reported in a boy with severe congenital hypotonia, myopathy, coagulopathy, and CDG type 2 and later associated with …”