Pitt–Hopkins syndrome clinical case
CLINICAL OBSERVATION
Abstract
Pitt–Hopkins syndrome is a rare pathology of the nervous system caused by a mutation in the TCF4 gene, located in the 21st locus of the 18th chromosome. The incidence rate is currently unknown. The main phenotypic manifestations of the syndrome are facial dysmorphisms: a beak-shaped nose, short nasal passages, a wide mouth with an upper lip in the form of a "Cupid's bow", widely spaced teeth, deep-set eyes, upturned palpebral fissures, a single palmar crease and fetal finger pads. Also, in addition to external changes, patients have intellectual disabilities. Many patients are characterized by a delay in psychomotor development, noted already in the first year of life. Over time, the behavior of patients is often associated with autistic disorders, which complicates the diagnosis of this syndrome. We have described a clinical case of a girl who had complaints of delayed psychomotor development, which was noted from 4 months, sleep disorders, rare sudden paroxysmal states in the form of excitement, crying. During an in-depth examination, Pitt–Hopkins syndrome was suspected, which was later confirmed molecularly genetically. We performed direct Sanger sequencing, which resulted in the discovery of a mutation chr18:55228987C>T c.2045G>A (p.Arg682Gln) in the TCF4 gene in a heterozygous state.
The article reflects the theoretical aspects of Pitt–Hopkins syndrome, clinical features and requirements for diagnosing the syndrome using the example of a diagnostic search in a young child.
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