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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Kabuki syndrome and Metachromatic Leukodystrophy, ...
Kabuki syndrome and Metachromatic Leukodystrophy, dual diagnosis in a female patient: a case report
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This document presents a case report of a female patient diagnosed with both Kabuki syndrome (also known as Niikawa syndrome) and metachromatic leukodystrophy (MLD). Kabuki syndrome is a rare disorder caused by pathogenic variants in the KMT2D and KDM6A genes, and it is characterized by various physical and developmental abnormalities. MLD, on the other hand, is an autosomal recessive condition caused by pathogenic variants in the ARSA gene, leading to progressive neurological deterioration.<br /><br />This case report is significant because a combination of Kabuki syndrome and MLD has never been reported before. The patient presented with microcephaly, dysmorphic features, scoliosis, feeding difficulties, and other congenital anomalies. Genetic testing confirmed a heterozygous pathogenic variant in KMT2D and compound heterozygous pathogenic variants in ARSA, confirming the dual diagnosis.<br /><br />The family was offered a bone marrow transplant consultation, but they opted not to pursue it due to the ethical concerns surrounding the procedure in a patient with cognitive impairment.<br /><br />This case highlights the importance of molecular testing and genetic counseling in patients with complex phenotypes and multiple genetic conditions. It also emphasizes the need for considering different diagnoses with potentially differing prognoses.<br /><br />The patient, at 8 years old, did not exhibit any symptoms associated with MLD, despite having a depressed level of enzyme activity. The document includes a table comparing the features of Kabuki syndrome type 1, late infantile MLD, and adult MLD to illustrate the overlapping and distinguishing characteristics of the two disorders.<br /><br />In conclusion, this case report describes a unique dual diagnosis of Kabuki syndrome and MLD in a female patient. It underscores the importance of genetic testing and counseling when faced with complex phenotypes and multiple genetic conditions.
Asset Subtitle
Presenting Author - Robert RO. LEBEL, MD; Co-Author - Jennifer Black, MS, CGC; Co-Author - Melissa C. Byler, CGC; Co-Author - Robert Roger Lebel, MD, FACMG; Co-Author - Nienke Dosa, MD, MPH;
Meta Tag
Clinical History
Cognitive Disorders
Congenital Anomaly
Counseling
Exome sequencing
Gastrointestinal System
Genetic Testing
Intellectual disability
Malformation
Metabolic Disorder
Microarray
Musculoskeletal system
Phenotype
Phenotypic delineation of disorders
Variant Detection
Co-Author
Jennifer Black, MS, CGC
Co-Author
Melissa C. Byler, CGC
Co-Author
Robert Roger Lebel, MD, FACMG
Co-Author
Nienke Dosa, MD, MPH
Presenting Author
Robert RO. LEBEL, MD
Keywords
Kabuki syndrome
Niikawa syndrome
metachromatic leukodystrophy
MLD
KMT2D gene
KDM6A gene
ARSA gene
microcephaly
dysmorphic features
scoliosis
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