Leopard syndrome: multiple lentiginosis and hypertrophic cardiomyopathy. clinical case

Abstract

Leopard syndrome (LS) is an autosomal dominant disease characterized by multiple lentigo and café-au-lait spots, ECG disorders, ocular hypertellorism, obstructive cardiomyopathy, pulmonary artery stenosis, male and female genital pathology. The frequency of this syndrome is unknown, nearly 200 clinical cases have been described in the literature so far.
The clinical case. The article presents the clinical case of a girl with Leopard syndrome who was admitted to the pediatric department of Lviv Regional Hospital OHMATDYT with the complaints of learning difficulties compared to her peers, fatigue, frequent headaches, shortness of breath, and exacerbations during exercise. On examination: general state of moderate severity. Skin and mucous membranes pale — pink, hypertellorism of the eyes was determined, multiple pigmented lentigenes spread throughout the body and hyperhidrosis of the palms. Physical development — below average. Peripheral lymph nodes not enlarged. On ausculation: vesicular breath sounds, muffled heart tones, heart rate 90 beats/min, intense (4/6) systolic murmur in 2–4 intercostal space to the left and at the apex. Arterial blood pressure — 110/60 mmHg. Signs of systolic overload and left ventricular hypertrophy and of the left ventricular posterior and lateral ischemia on ECG. Hypertrophic cardiomyopathy, an asymmetric, obstructive form, was diagnosed during the echo-cardiographic examination. With intracardiac gradient — 66–106 mmHg. ENT doctor consultation revealed bilateral sensoneural hearing loss of II degree, more pronounced on the left. Ophthalmologist consultation — Vis OD:OS=0.4:0.4. The fundus — pathological changes were not detected. Vision correction — (-3). The diagnosis is mixed astigmatism, amblyopia. Pathology of genitalia was not found on examination by a pediatric gynecologist. After the paraclinical examinations, the child was referred for consultation by a geneticist and a clinical diagnosis was established «Leopard syndrome, multiple lentigo syndrome».
Conclusions. The phenotype of LS is extremely heterogeneous with clinical manifestations ranging from minor facial dysmorphia and multiple lentigo to patients with severe hypertrophic cardiomyopathy, mental retardation and deafness. The presence of multiple lentigenes makes it possible to suspect the syndrome and to conduct a thorough clinical and genetic examination in a timely manner. The absence of lentigo in early childhood and the similarity of the clinic to Noonan syndrome complicates early diagnosis of the syndrome. Most often children with LS are diagnosed with hypertrophic cardiomyopathy, which should be closely monitored by a cardiologist to prevent sudden cardiac death.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies.
No conflict of interest were declared by the authors.