MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy) and nutrological management: a rare case report

Abstract

Introduction: Congenital lipodystrophies comprise a rare group of heterogeneous disorders that affect adipose tissue distributions and are characterized by varying degrees of body fat loss. Genetic damage, telomere shortening, cellular senescence, and proliferation defects are hallmarks of the aging process. Metabolism and mitochondrial activity play an important role in the pathogenesis of MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy). Objective: It was to report the case and diagnosis of a patient with MDPL syndrome and the nutrological management. Case report: The information was obtained during the patient's medical consultation with the author, interview with the patient and family, photographic record, and literature review. This study followed ethics committee compliance and preserved the patient's anonymity, as well as the patient's rights and care, as per the 1964 Declaration of Helsinki. The total fat percentage of 32% (54th percentile), a very low relative musculoskeletal index of 2.56 kg/m², and also a low fat mass index of 3.89 g/m². Laboratory tests showed a low leptin of 1.90 ng/mL, basal insulin of 166.3 μUI/mL, HOMA IR of 38.2, and triglycerides of 205 mg/dL. Analysis of DNA extracted by oral SWAB was positive for alteration in the POLD1 gene, confirming the diagnosis of MDPL. After initiating treatment with a diet adjusted in proteins, calories, index, and glycemic load, metformin, the patient presented new exams with HOMA-IR 8.3, evolving with a gain of 2.5 kilos, now with 33.1 kilograms of weight, reporting improvement. Final considerations: The reported case and raised publications bring to light the discussion of the diagnosis and treatment of a complex syndrome such as MDPL. The absence of a cure, the difficulty in diagnosis, and the unavailability of some of the therapeutic resources make the syndrome of mandibular hypoplasia, deafness, progeroid characteristics, and lipodystrophy an extremely rare syndrome, difficult to diagnose, and difficult to manage. Progress in identifying lipodystrophy genes will help to better understand the role of pathways involved in the complex physiology of fat. Studies have shown mitochondrial dysfunction as well as morphological alterations in mitochondria in patients with MDPL.