Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review

Abstract

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

“…Usually only patients with neurologic presentation, occurring in approximately 30%, will be referred for cranial MR imaging. In individual patients with MR imaging previously reported, white matter changes have commonly been observed, 2,[4][5][6][13][14][15][16][17][18][19][20][21][22][23][24][25] including brain stem involvement in 3 [4][5][6] and, less commonly, T2 hypointensity of cortical or deep gray matter structures. 2,5,6,[14][15][16]22,23 As yet, there are no histopathologic data.…”

“…Diffuse T2 hyperintensity of supratentorial white matter has been observed in individual cases, brainstem involvement in three. [4][5][6] Having noted brain stem involvement in our patients, we retrospectively reviewed cranial MR imaging, including 1 H-MR spectroscopy and DWI, of 6 genetically confirmed patients with MR imaging seen at our institutions to investigate the pattern of MR imaging changes in ODDD.…”

Sclerosing bone dysplasias

“…In both types of ODOD, mutations in the GJA1 gene are the underlying genetic cause (114). So far, over 80 mutations in GJA1 are reported and the majority of these are autosomal dominant missense mutations (113). As mentioned…”

“…Patients with ODOD can show craniofacial bone defects around the eyes and the nose, microphthalmia, microcornea, syndactyly of the digits, skin disorders and loss of enamel. In addition there is a wide spectrum of other symptoms that is only reported in a subset of the patients such as conductive hearing loss, muscle weakness and other neurological manifestations (112,113). In both types of ODOD, mutations in the GJA1 gene are the underlying genetic cause (114).…”