Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome

Abstract

We report on a 7-month-old boy with Micro syndrome who was referred for assessment of mental-motor retardation and reduced vision with cataract. The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome. Till date, no renal malformations have been reported in Micro syndrome. Our patient had fusion of the lower poles of the kidneys and his left kidney was ectopic. Ocular findings are the most reliable neonatal diagnostic signs of Micro syndrome. Minör anomalies in Micro syndrome may be subtle and therefore not of significant diagnostic value. Micro syndrome is an autosomal recessive trait. Till date, most reported cases have been in individuals of Muslim origin. In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract.

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy

“…Cerebral and cerebellar atrophy, as well as hypoplasia of the corpus callosum seem to be hallmarks of WARBM [3,6,13]. In our patients too, it was possible to observe cerebral and cerebellar atrophy with hypoplasia of the corpus callosum.…”

“…In recent years, access to molecular genetic analysis has made possible the delineation of the WARBM phenotype. WARBM manifests with microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, hypogonadism and severe mental retardation [6]. Two WARBM-affected sisters were also found to manifest peripheral neuropathy [11].…”

Prenatal Diagnosis of Fetal Cataract: Case Report and Review of the Literature

“…The combination of microphthalmia with fetal cataract, hypogenitalism and hypotonia suggested a final diagnosis of Micro syndrome [15] .…”

Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice

“…Regardless which of the four genes harbors the causative mutation, all WARBM individuals present with indistinguishable clinical features [1,5]. Eye abnormalities in WARBM children are characterized by congenital cataracts, microphakia, microcornea, microphthalmia, optic nerve atrophy, and small, atonic pupils [6,7]. Postnatal microcephaly, predominantly frontal polymicrogyria, corpus callosum hypogenesis, enlarged subdural spaces, cerebellar vermis hypoplasia are brain characteristics in the affected WARBM children; these abnormalities are accompanied by seizures and severe intellectual disability [8][9][10].…”

“…Postnatal microcephaly, predominantly frontal polymicrogyria, corpus callosum hypogenesis, enlarged subdural spaces, cerebellar vermis hypoplasia are brain characteristics in the affected WARBM children; these abnormalities are accompanied by seizures and severe intellectual disability [8][9][10]. Microgentialia is present in both the WARBM affected boys and girls [1,7,9]. In addition to eye, brain and genital abnormalities, WARBM children also exhibit hypotonia of truncal muscles, as well as spasticity of the limbs resulting in the inability to walk, sit, or crawl, and ultimately resulting in quadriplegia [1].…”