Huntington’s chorea in a child. the first description of the disease in ukraine. proper observation

Abstract

Huntington's disease (HD, ICD-10 — G-10, ICD-11 — 8A01.10) — is an autosomal dominant neurodegenerative disease characterized by motor disorders (chorea in adults and akinetic-rigid syndrome in children), mental disorders and dementia with progressive course and mortality of 100%. Aim of research. To present a unique case of Huntington's chorea diagnosed in a child at the age of 4 in the third generation in the family. This case is described for the first time in Ukraine. Results of research. Girl at the age of 4 years and 7 months who has been admitted to the NCSH «OKHMATDIT» with complaints about linguistic and psychic skills loss, ambulation disorder, and periodic falls from her standing height, episodes of urinary incontinence and attacks. Child was born healthy. Mental development was appropriate with age. The first symptoms appeared at the age of 1 year while walking. Initially, a slight spastic lower paraparesis (walking on toes) was diagnosed. With time a spastic-dyskinetic walking appeared, worse to the left. From the age of 4, the regress of psychic functions began (The interest in fairy tales disappeared. The child became inattentive, ceased to maintain herself, memory decreased). Furthermore regress of speech began with the formation of extrapyramidal dysarthria and the poverty of speech. At the same time, the ambulation worsened, generalized epileptic seizures appeared. It is necessary to emphasize the fact that the family anamnesis is burdened on the father`s line. Her father, grandfather, great-grandmother on the father`s line had HD. Across pregnancy, testing of an amniotic fluid was conducted. 120 CAG repeats were detected. During the examination of the child the disruption of communication was determined (the girl performs some simple commands), dysphasia, extrapyramidal dysarthria (pronounces some obscure words, no phrasal language). In the neurological status there is pseudobulbar syndrome (hypersalivation), deviation of the tongue to the right. The gait is spastic-dystonic, worse to the left. Change in muscle tone by plastic type in arms and legs, more to the left; hyperkinesis in the fingers (athetosis), dystonia in the feet and feet clonus. On the MRI there was a moderately expressed diffuse decrease in the volume of parenchyma of both cerebellar hemispheres, the deepening and expansion of the cerebellar grooves, some thinning of the cerebellar stalks. Also there are no cerebellar tonsils, wide Magendie's foramen, and a moderately enlarged cisterna magna. It is interesting to note that the MRI of cerebral hemispheres, basal ganglia is without pathological changes. The electroencephalogram revealed generalized high-amplitude spike-wave epileptic activity during the entire recording. At the age of 4 years, the molecular genetic analysis was re-conducted; the number of CAG repeats was 130. For the treatment of epilepsy, the girl received antiepileptic drugs (valproates, lamotrigine) at maximum doses with minimal effect. Conclusions. 1. Huntington's chorea is a severe autosomal dominant neurodegenerative disease with 100% mortality. 2. Genetic imprinting is characteristic for the disease. It is dependence of a form and severity of the disease onset from the parent source of the mutant chromosome. 3. At an early age and in youth the akinetic-rigid syndrome is prevalent. 4. Under 10 years of age, the disease may occur with epileptic seizures, so it is necessary to collect family anamnesis not only for epilepsy, but also for the progressive neurological and psychiatric diseases, including adults. 5. With the signs of progressing neurodegenerative disease in a child, it should not be rejected that there is the possibility of the Huntington`s chorea diagnosis. Such families should be referred for medical genetic counseling. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee (LEC) of all participating institution. The informed consent of the patient was obtained for conducting the studies.