Hereditary primary motor sensory neuropathy (Charcot Marie Tooth)

Farkas, Cristina

doi:10.53347/rid-50544

Cited by 1 publication

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“…Мутации в гене MPZ приводят также к развитию нескольких клиническо-генетических вариантов болезни ШМТ, Дежерина-Сотта, Русси-Леви, врожденной гипомиелинизирующей нейропатии. К настоящему времени картировано более 40 локусов, отвечающих за наследственные моторно-сенсорные нейропатии, идентифицировано более двадцати генов, мутации в которых приводят к развитию клинического фенотипа ШМТ [6][7][8][9][10][11][12][13][14].…”

Section: Discussionunclassified

“…Формирующиеся изменения привлекают внимание специалистов к неврологическому статусу и изменениям опорнодвигательного аппарата. Действительно, анализ клинических случаев демонстрирует такие жалобы как нарушением походки, мелкой моторики (письма) и отсутствие описаний дисфагии и другой симптоматики со стороны ЖКТ, настораживающей клиницистов, в приводимых отечественных клинических наблюдениях [9][10][11][12][13][14].…”

Section: Discussionunclassified

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Damage to the esophagus in combination with hereditary motor and sensory neuropathy: description of a clinical case in a 12-year-old child

Yankina,

Loshkova,

Khavkin

et al. 2024

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The article discusses a clinical case of a combination of achalasia of the cardia complicated by candidal esophagitis, which led to severe dysphagia and a significant decrease in body weight of a patient suffering from hereditary motor and sensory neuropathy - Charcot-Marie-Tooth disease (CMT) type 4 E. The authors highlight the pathogenesis and clinical picture diseases, features of the course of achalasia in a patient with a hereditary neurological disease. In this clinical case, an example of a disease in a 12-year-old girl is considered. A feature of this patient was progressive dysphagia, which ultimately led to the almost complete impossibility of normal food intake and the development of nutritional insufficiency. CMT disease is a heterogeneous group of hereditary disorders affecting the peripheral nervous system, as a result of the progression of the disease, motor and sensory dysfunction develops, such patients are under the supervision of neurologists. The presence of atypical symptoms, including not only progressive muscle weakness and exhaustion, with sensory deficits in the distal parts of the limbs, but also the severity of dysphagia, which from episodic becomes permanent, prevents the passage of not only solid food, but also liquid through the esophagus, the occurrence of esophageal vomiting - should serve as the basis for a complete examination of the patient using methods that allow visualization of the esophagus. In the available domestic literature, no description of the combined course of the pathological conditions indicated in the observation was found; isolated cases are given in the foreign literature, so the description of this clinical observation is relevant for raising awareness and early diagnosis of gastrointestinal smooth muscle dysfunction against the background of polyneuropathy.

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