Introduction: Melnick Needles Syndrome corresponds to a rare skeletal dysplasia of genetic etiology, with dominant inheritance pattern attached to the X chromosome. Mutations related to the gene of filamina A, which is responsible for the synthesis of collagen, are responsible for the clinical and phenotypic manifestations of the disease, with predominantly female involvement. Rickets are caused by inadequate mineralization of the bone, which precedes the closure of the epiphyseal plaque. Of varied etiologies, clinical signs and symptoms refer to hypocalcemia and/or hypophosphatemia, and their respective complications, requiring individualized treatment. This case report exposes a patient attending Melnick Needles syndrome and rickets.
Methods: Patient 14 years old, referred by pediatrics at age 13 due to symptomatic hypocalcemia, with paresthesias, and radiological exams with signs of osteopenia and low bone mineral density. History of respiratory distress at birth and marked delays in neuropsychomotor development. Karyotype 46, XX. Non-consanguineous parents, and no relevant pathologies. It presents a marked short stature (height inferior to P3), small face with hypoplasia of the middle part, proptosis, ocular hypertelorism, micrognathia, brachydactyly, genu varum, and other characteristic syndromic findings, allowing the diagnosis of Melnick Needles Syndrome by the geneticist at 8 years of age. age. She was followed in pediatrics because of the short stature, but she was not a candidate for GH therapy. Menarche at age 12, following with usual menstrual cycles. At initial physical examination, the signs of Chvostek and Trousseau were negative.
Results: Initial exams revealed hypocalcemia, hypophosphatemia and elevation of parathyroid hormone and serum alkaline phosphatase. It presents radiographs of long bones with severe bone demineralization, enlargement of metaphyses and small fractures with solution of continuity in the medial region of the femurs. In prospective research, reduced values of 25-hydroxyvitamin D and high levels of 1,25-dihydroxyvitamin D were identified. Treatment was implemented with cholecalciferol 7,000 UI/week, calcitriol 0.25 mcg 4 times a day, and phosphorus.
Conclusions: This is a picture compatible with rickets in a patient with Melnick Needles Syndrome. This association was not previously described, not allowing the establishment of a causal relationship between diseases.
Keywords: Melnick Needles Syndrome; rickets.
18 - 21 May 2019
European Society of Endocrinology