Table of Contents

HK J Paediatr (New Series)
Vol 2. No. 2, 1997

HK J Paediatr (New Series) 1997;2:186

Proceedings of Scientific Meeting

Severe CNS Defects in A Patient with V'aradi Syndrome

KL Kwong, YC Wong, LM Wong, PS Li, S Li, K Tse, NS Kwong

HK J Paediatr (new series) 1997;2:175-186

Hong Kong Paediatric Society 35th Anniversary Scientific Meeting September 6,1997

The oral-facial-digital syndromes (OFDS) are a heterogenous group of disorders characterized by facial anomalies, oral manifestations and digital abnormalities. To date, 11 different types of OFDS have been reported on the basis of specific clinical features. CNS defects have been ascribed to each type of OFDS: cerebellar anomalies to V'aradi syndrome (OFD VI). Herein we report on a girl with V'aradi syndrome who suffered from an unusual combination of CNS defects.

A Vietnamese newborn girl was born at term from non-consanguineous parents. Dandy-Walker anomaly was detected by antenatal ultrasonogram. Birth weight, height and head circumference were on the 50th centiles. Multiple malformations compatible with V'aradi syndrome were noticed soon after birth that included lingual nodule, central polydactyly of hands, hypertelorism, flat nasal bridge and mild micrognathia. There was no family history of OFDS. MRI brain showed Dandy-Walker anomaly, hypoplasia of corpus callosum and hypothalamic harmatoma. Chromosomes were 46,XX. In the neonatal period, she developed recurrent apnea and oromotor dysfunction. On subsequent follow up, she was very hypotonic with severe global developmental delay. Visual following and fixation was poor. No nystagmus was observed. Fundi were normal. There were no features of precocious puberty.

The delineation of different types of OFDS is based on clinical features and types of inheritance. Gene (s) involved in the pathogenesis of OFDS is still unknown. Neuroradiological investigations serve as a complement to establish a differential diagnosis between the OFDS. V'aradi syndrome is an autosomal recessive disorder characterized by a combination of central polydactyly, lingual nodules and breathing pattern. The most distinguished trait is its association with severe mental retardation secondary to cerebellar defects and in particular, the Dandy-Walker malformation. To the best of our knowledge, the combination of brain defects that our patient displays has not been reported. Hypothalamic harmatoma has only been described in 2 patients with V'aradi syndrome. It seems that corpus callosm abnormalities are more frequently associated with OFDS type I than other types of OFDS. Hypoplasia of corpus callosum has not been reported in patients with V'aradi syndrome. A critical reappraisal of the literature discloses that different types of brain defects may occur in a patient with an OFDS and reciprocally, that different types of OFDS may present with similar cerebral anomalies.


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