2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Clinical Features and Diagnostic Management of Infant with Encephalocraniocutaneous Lipomatosis and Congenital Hypothyroidism

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This document discusses a case report of a female infant with Encephalocraniocutaneous Lipomatosis (ECCL) and congenital hypothyroidism. The baby was born with a nevus psiloliparus (NP) and had no significant family history or gestational exposures. At 5 months old, she presented with seizures, and an EEG showed abnormal brain activity. MRI scans revealed atrophy of the right cerebral hemisphere, an arachnoid cyst, and abnormalities in the right eye. A biopsy of the NP confirmed the presence of an FGFR1 K656E variant, which was determined to be somatic in origin. The baby is currently 13 months old and has normal growth and speech development but experiences motor delays. She is receiving physical and occupational therapy and is under control of her seizures with medications. The patient is the youngest reported case of ECCL with the molecularly confirmed FGFR1 K656E variant.<br /><br />ECCL is a neurocutaneous disorder characterized by specific skin, eye, and central nervous system (CNS) abnormalities. It is often associated with seizures and intellectual disability. The condition is caused by mosaic gain-of-function mutations in FGFR1 or KRAS genes. Out of 85 reported ECCL patients, 14 have had pathogenic heterozygous FGFR1 variants, with the most common variant being the FGFR1 K656E. This case highlights the importance of early detection of ECCL and reinforces the similarities and differences between this patient and others with the same FGFR1 variant. The patient does not have CNS lipomas or tumors, which are commonly seen in other cases.<br /><br />In conclusion, this case report presents a unique case of ECCL and congenital hypothyroidism in an infant with the FGFR1 K656E variant. The patient has experienced seizures, motor delays, and CNS abnormalities but is showing normal growth and speech development with appropriate medical intervention and therapy. The case emphasizes the need for early detection and comprehensive management of ECCL.

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Co-Author - Meera K. Jairath, B.S.; Presenting Author - Kristen Lancaster, MD; Co-Author - Diana McShane, MD; Co-Author - Muge Gucsavas Calikoglu, MD MPH;

Meta Tag

Phenotype

Intellectual disability

Genotype-Phenotype Correlations

Eye disorders

Congenital Anomaly

Clinical History

Brain/Nervous System

Co-Author Muge Gucsavas Calikoglu, MD MPH

Co-Author Diana McShane, MD

Co-Author Meera K. Jairath, B.S.

Presenting Author Kristen Lancaster, MD

Keywords

Encephalocraniocutaneous Lipomatosis

ECCL

Congenital Hypothyroidism

Nevus Psiloliparus

Seizures

FGFR1 K656E variant

Molecularly confirmed variant

Neurocutaneous disorder

FGFR1 or KRAS genes

Early detection of ECCL