Naslov
Megalocornea - mental retardation syndrome: a new case

Autori
Barišić, Ingeborg ; Ligutić, Ivo ; Zergollern, Ljiljana

Izvornik
Medizinische Genetik (0936-5931) 2 (1995);

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
megalocornea - mental retardation syndrome

Sažetak
Megalocornea-mental retardation syndrome (MMR) is a rare disorder presenting with megalocornea, mental and motor retardation, hypotonia, short stature and characteristic dysmorphic traits. There have been 20 cases reported so far, revealing a spectrum of different clinical features. Although the autosomal recessive inheritance is suggestive, the gene location as well as the pathogenesis of the disease are still unknown. We present an additional case, a 2-year-old girl born to healthy unrelated parents who already have a healthy son. The pregnancy was uneventful and the delivery that took place at home was apparently at term and without complications. Birth weight and length were not recorded. During the newborn period she had convulsions and was treated with phenobarbital. When first seen by us at the age of 2 years, she had short stature, hypotonic cerebral palsy leading to delayed motor development. Her psychosocial achievement was equivalent to 8-month old child. Ophthalmologic examination revealed megalocorneae (corneal diameters 13 mm), normal intraocular pressure, anterior segments and fundi. Minor anomalies of the face included mild frontal bossing, antimongoloid eye slants, small epicanthal folds, broad and slightly depressed nasal bridge, large carp mouth, micrognatia. Scoliosis was also present. Laboratory examinations as well as prometaphase chromosomes, brain CT, EMG and nerve conduction velocity were normal. EEG showed a slow baseline activity and brainstem auditory evoked potentials delayed conduction. On brain MRI symmetrical delay of myelinisation in perioccipital regions was recorded. The variability of associated anomalies found in the review of literature cases makes difficult to explain all clinical presentations on the basis of clinical variability and expressivity alone. This allows the hypothesis of a causal heterogeneity and perhaps the existence of several distinct entities within this condition. Additional reports are needed to delineate the phenotypes comprised by MMR syndrome with more accuracy, helping thus the diagnosing and family counselling in this rare disorder.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA