Endocrine Abstracts

JOINT3350

Background: Lamb-Shaffer syndrome (LAMSHF) is an extremely rare genetic disorder due to SOX5 gene mutation, characterized by global developmental delay, intellectual disability, skeletal anomalies and typical facial features.

Case report: An 11-month-old boy came to our attention for poor growth. His weigh was 6120 g (-3.95 SD, WHO), length 70 cm (-2.10 SD, WHO) and CC 33.5 cm (-1.24 SD, WHO). Frontal bossing, reduced subcutaneous fat with dystrophic appearance and cervical axial tone inadequate for age were observed. Past medical history: born by in vitro fertilization (FIVET) at 37 weeks of gestational age after a pregnancy complicated by gestational diabetes, treated with insulin. The birth weight was 2400 g (-1.64 SDS), the length was 47 cm (-1.03 SDS), and the cranial circumference (CC) was 33.5 cm (-0.40 SDS). Ostium secundum atrial septal defect was found after the birth, no alterations at the neonatal cranial ultrasound, and the glycemic control was always adequate. After the birth the patient was admitted to the hospital frequently: at the age of 5 months due to respiratory syncytial virus bronchiolitis, at 7 months for fever and feeding difficulties, at 9 months due to Cytomegalovirus and B-influenza virus infection. No alterations were found at the abdominal and heart ultrasound. After the weaning the boy showed bottle feeding difficulties with daily vomiting episodes and a global developmental delay. During the subsequent hospitalization due to urinary infection, selective immunoglobulin A deficiency was found, and the brain Magnetic Resonance Imaging (MRI), performed due to the worsening developmental delay, showed a ventricular dilatation, with global subatrophy, without acute event signs. After our first evaluation, due to his worsening short stature (SS) associated by neuropsychiatric impairment, a new laboratory assessment was performed: growth hormone deficiency and celiac disorder were ruled out, and no food allergies were found. Array CGH showed 12p12.1 de novo deletion, involving SOX5 gene.

Conclusions: LAMSHF is a rare condition with normal birth parameters and growth impairment can be developed during the first years of life. In children with SS, once the main causes of their growth deficiency are ruled out, genetic evaluation has to be considered for the differential diagnosis. In this context, due to SS associated with neurodevelopmental delay, we preferred to perform an Array CGH that permitted the diagnosis. There is no specific treatment for LAMSHF but a comprehensive multidisciplinary care model is required for these patients.