A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia
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A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia Dilek Cavusoglu1 · Nihal Olgac Dundar2 · Pinar Arican3 · Berk Ozyilmaz4 · Pinar Gencpinar2 Received: 13 January 2019 / Accepted: 18 June 2019 © Belgian Neurological Society 2019
Keywords Hypomyelination · Calcification · Oculodentodigital dysplasia A 16-year-old boy was admitted to our clinic with facial dysmorphism involving microphthalmia, short narrow palpebral fissures, a narrow nose, a depressed nasal bridge, micrognathia, and clinodactyly. Neurological examination revealed spastic tetraparesis, upper and lower limb hyperreflexia, and bilateral Babinski sign. He was born to consanguineous parents. He had neurodevelopmental delay and previous surgery for bilateral cataracts. The patient’s parents had no similar symptoms. Results were normal for complete blood count, routine biochemistry, plasma lactate, tandem mass spectrometry, blood and urine quantitative amino acids, urine organic acids, very long chain fatty acids, and parathyroid hormone levels. Brain magnetic resonance imaging (MRI) showed hypomyelination and bilateral abnormal signal changes in the basal * Nihal Olgac Dundar [email protected] Dilek Cavusoglu [email protected] Pinar Arican [email protected] Berk Ozyilmaz [email protected] Pinar Gencpinar [email protected] 1
Department of Pediatric Neurology, Faculty of Medicine, Afyon Kocatepe University, Afyon, Turkey
2
Department of Pediatric Neurology, Faculty of Medicine, Tepecik Training and Investigation Hospital, İzmir Katip Celebi University, 1140/1 Street, No: 1 Yenisehir, Konak, 35170 Izmir, Turkey
3
Department of Pediatric Neurology, Tepecik Education and Research Hospital, Izmir, Turkey
4
Department of Medical Genetics, Tepecik Education and Research Hospital, Izmir, Turkey
ganglia (caudate nucleus, putamen, and globus pallidus), thalamus, dentate nucleus and periventricular and deep white matter on T1, T2-weighted, and FLAIR sequence images (Fig. 1a–f). Bilateral calcification of the basal ganglia, thalamus and deep white matter was observed on computed tomography (CT) of cranium scans (Fig. 2a, b). GJA1 gene mutation analysis was performed with Sanger sequencing and revealed a previously unreported homozygous c.168_169insT (p.Gln57SerfsTer6) variant. This was a frameshift variant and interpreted as “pathogenic” according to the “Standards and guidelines for the interpretation of sequence variants” released by the American College of Medical Genetics and Genomics (ACMG). Oculodentodigital dysplasia (ODDD) is a rare and hypomyelinating disorder caused by mutations in the GJA1 gene which encodes the gap junction protein connexin43 (Cx43) [1, 2]. Most ODDD patients maintain a highly penetrant autosomal dominant mode of transmission, but some cases of apparent autosomal recessive (AR) inheritance have been reported, as in our patient. ODDD contains a variety of anomalies which can be ocular (microcornea, short palpebral fissures, epicanthal folds, catarac
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