Case Report: Potocki-Lupski Syndrome in Five Siblings.

Tudor Lucian Pop,Claudia Sîrbe,Alina Grama,Delia Huniadi,Bogdan Bulata,Diana Miclea,Simona Sorana Cǎinap

doi:10.3389/fped.2021.698629

Abstract

Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowing difficulties or growth hormone deficiency. We report the first Romanian family (a mother and her five children) diagnosed with PTLS (17p11.2 microduplication). Fortunately, they present a less severe form of the disease. The neurological manifestations (speech delay, mild intellectual disability) are associated with craniofacial dysmorphism (microcephaly, micrognathia, triangular face, broad forehead, long chin, prominent ears, dolichocephaly, down slanting palpebral fissures). The diagnostic was established using a multiplex ligation-dependent probe amplification technique (MLPA) test, which detected the duplication of three regions of the 17p11.2 chromosome (RAI1, DRC3-6, LLGL1-4RA). Children with PTLS have specific phenotypes (craniofacial dysmorphism or neurological manifestations), which must draw the pediatrician's attention to a possible genetic condition. However, every child with this disease is unique and may have a different clinical presentation. A multi-disciplinary team is needed for the management of these patients. The parent's counseling and genetic advice are essential for a family with children with PTLS.

Highlights

Potocki-Lupski syndrome (PTLS) is a very rare chromosomal anomaly (1:25.000 people worldwide), resulting from the partial duplication of the short arm of chromosome 17 (17p11.2 microduplication) [1]
PTLS is a developmental disorder with features ranging from mild to severe ones
Abdominal ultrasound examination and laboratory parameters were in normal ranges. Even though they have a mild form of PTLS, presenting just some of the clinical features described in this disease, the children are followed by a multi-disciplinary team including pediatricians, a nutritionist, a neurologist, a psychiatrist, a psychologist, speech therapy specialists, and social-aid workers

Summary

INTRODUCTION

Potocki-Lupski syndrome (PTLS) is a very rare chromosomal anomaly (1:25.000 people worldwide), resulting from the partial duplication of the short arm of chromosome 17 (17p11.2 microduplication) [1]. Abdominal ultrasound examination (including renal examination) and laboratory parameters (electrolytes, liver or renal function tests, and bone metabolism) were in normal ranges Even though they have a mild form of PTLS, presenting just some of the clinical features described in this disease, the children are followed by a multi-disciplinary team including pediatricians, a nutritionist, a neurologist, a psychiatrist, a psychologist, speech therapy specialists, and social-aid workers. Genetic testing must be used in a patient with an intellectual disability or other psychiatric or neurologic signs associated with facial dysmorphism, congenital anomalies and/or failure to thrive. The lack of specificity of the clinical presentation in PTLS indicates the need for a more rigorous evaluation of individuals with intellectual disability (isolated or syndromic) by genetic testing, as chromosomal microarray or MLPA technique [13]. We considered it necessary to report this family with

CONCLUSIONS

Findings

ETHICS STATEMENT