Balkan Journal of Medical Genetics

EXPERIENCE WITH THE KETOGENIC DIET IN A BOY WITH CLCN4 RELATED NEURODEVELOPMENTAL DISORDER
Sager G, Yukselmi̇s U, Güzel O, Turkyilmaz A, Akcay M
*Corresponding Author: Gunes SAGER, MD, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Semsi Denizer Avenue, Cevizli, 34890, Kartal, Istanbul, Turkey. ORCID-ID: 0000-0002-9876-2454, Tel: +905055983104, E-mail: sgunessenturk@gmail.com
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INTRODUCTION

Raynaud-Claes syndrome is a rare syndrome linked to the X chromosome. People with this syndrome exhibit fa- cial dysmorphism (long face, prominent chin, flat midface, downslanting palpebral fissures, strabismus), hypotonia, mild to severe intellectual disability, epilepsy, epileptic encephalopathy, behavioral problems, and cerebral atrophy [1]. Some heterozygous females are unaffected; however, mild to severe intellectual disability can be seen in some heterozygous girls. As expected, male patients exhibit a more severe clinical picture [2]. The chloride channel (CLC) gene family comprises nine different channel proteins in mammals, four of which encode plasma membrane CLCs (ClC-1, ClC-2, ClC-Ka, ClC-Kb) and the other five encode intracellular 2Cl−/H+ exchangers (ClC-3–7). The ClC-4 channel protein en- coded by the CLCN4 gene in chromosome Xp22.2 is a voltage-dependent 2Cl−/H+ exchanger. Pathogenic varia- tions in the CLCN4 gene cause Raynaud-Claes syndrome (MIM:#300114) listed in the Online Mendelian Inheritance in Man database. ClC-4 is expressed in the brain as well as in striped muscle tissue, heart, intestine, and kidney. CIC-4 is probably involved in the ion homeostasis of endosomes and intracellular trafficking, but its physiological function is still unknown [3]. A study conducted with a meta-analysis revealed that neurodevelopmental disorders associated with CLCN4 have been identified in 122 individuals from 67 families so far [4]. The traditional ketogenic diet is characterized by its high-fat, adequate-protein (1 gram/kg), and low-car- bohydrate composition, inducing metabolic alterations reminiscent of a state of starvation. Shifts in plasma ketones, insulin, glucose, glucagon, and free fatty acids may manifest within hours of initiating the diet, exhibiting significant and rapid changes [5]. The effectiveness of ketogenic diet therapy extends to patients with epilepsy across various ages and seizure types, solidifying its status as a beneficial treatment op- tion [6]. Here, we report on three cases of Raynaud-Claes syn- drome in a family with a missense variant in the CLCN4 gene.

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