Elsevier

Pediatric Neurology

Volume 20, Issue 1, January 1999, Pages 70-72
Pediatric Neurology

Original Articles
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum

https://doi.org/10.1016/S0887-8994(98)00099-XGet rights and content

Abstract

A Japanese male with mosaicism of ring chromosome 14 and chromosome 14 monosomy is described. He demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seizures. Clusters of complex partial seizures, one of which originated in the left frontocentral region on electroencephalographic monitoring, were evident. His seizures responded to phenobarbital, and his mental and motor development was only mildly retarded. Magnetic resonance imaging revealed a hypoplastic corpus callosum, previously unknown in association with this syndrome.

Introduction

More than 40 patients with ring chromosome 14 have been reported since the first description by Gilgenkrantz et al. [1] in 1971 [2], [3]. It is well known that patients with ring chromosome 14 have fairly constant dysmorphic characteristics and clinical features, including mental retardation and epilepsy. Until Shirasaka et al. [4] reported a patient demonstrating complex partial seizures, the seizures in this disorder were considered to be exclusively generalized. The cause of epilepsy in ring chromosome 14 is not known.

The authors describe a male having mosaicism of ring chromosome 14 and chromosome 14 monosomy, complex partial seizures, and hypoplastic corpus callosum.

Section snippets

Case report

A 2-year-old Japanese male, the second child of healthy and nonconsanguineous parents, was born weighing 2,460 gm after an uneventful 38-week pregnancy. The delivery was also uneventful. During the neonatal period, he had pneumonia and was admitted to a hospital for 1 month. A combination of minor anomalies, including microcephalus, downward slanting palpebral fissures, epicanthal folds, flat nasal bridge, upturned nostrils, and short neck, suggested the presence of a chromosomal abnormality.

Discussion

Patients with ring chromosome 14 share common clinical manifestations, including mental and motor retardation, seizures, and characteristic combinations of minor anomalies [1], [2], [3]. It is said that the manifestations of ring chromosome 14 contribute to the terminal deletion of long arm, most probably distal to band 14q32 [5]. However, partial deletion of 14q was reported in six patients, and they lacked constant clinical characteristics [6]. The difference in manifestations between these

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Cited by (22)

  • Epilepsy in ring 14 chromosome syndrome

    2012, Epilepsy and Behavior
    Citation Excerpt :

    Moreover, a detailed description of seizure semiology is given. Table 2 shows all published cases [1,6–30]. We are reporting 39 previously published cases.

  • A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia

    2009, European Journal of Medical Genetics
    Citation Excerpt :

    Three cases [15,18] in the literature present an association between a 14q deletion and corpus callosum hypoplasia. Nevertheless, in the first case [15], the cytogenetic aberration is a ring chromosome 14 in which the deletion is telomeric and does not overlap the deletion of our patient (Fig. 3). In the second and third cases [18] the deletions are telomeric and also do not overlap our patient deletion so there is no common region between the three patients and our case (Fig. 3).

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