Dorra Bousnina

Multiple Congenital Anomalies/Mental Retardation Syndrome With Multiple Circumferential Skin Creases: A New Syndrome?

We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome.

An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient

Metachromatic leukodystrophy is an autosomal recessive neurodegenerative lysosomal disease characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neuronal and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activators protein deficiency. We report the case of a 3-year-old boy who presented a severe form of late infantile metachromatic leukodystrophy. This patient was found to be homozygous for the arylsulfatase A pseudodeficiency. This condition is rare and can lead to a severe disease. Prenatal diagnosis was performed in this family, and the fetus was healthy.

Monosomy 10q26-qter and trisomy 11q13-qter as a result ofde novo unbalanced translocation

A male infant with partial monosomy 10 q and partial trisomy 11q as a result ofde novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.

Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

The classical form of late infantile neuronal ceroid lipofuscinosis is a childhood hereditary neurodegenerative disease usually fatal in the first decade of life. We report a two-year-old Tunisian boy who presented this form of ceroid lipofuscinosis. A febrile seizure was the presenting symptom without psychomotor delay. Magnetic resonance imaging of the brain showed mild cerebellar atrophy. Fundus oculi showed bilateral posterior polar cataract, which is a new finding in the classical form of late infantile neuronal ceroid lipofuscinosis. A homozygous R208X mutation was identified in the NLC2 gene. On follow up, this patient presented with myoclonic epilepsy and regression of acquired milestones.