Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY.

Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD)  ARE CHARACTERIZED BY NEONATAL ONSET SEVERE NEURODEVELOPMENTAL DELAY, SEVERE HYPOTONIA, CRANIOFACIAL DYSMORPHISM, SEIZURES, POLYNEUROPATHY, HEPATIC DYSFUNCTION AND ABNORMALITIES OF VISION AND HEARING. THERE ARE PREDOMINANTLY THREE CLINICAL PHENOTYPES- ZELLWEGER SYNDROME,NEONATAL ADRENOLEUCODYSTROPHY, INFANTILE REFSUM DISEASE. THERE ARE NOW CASE REPORTS OF PATIENTS WITH ATAXIA AND SPASTICITY WITH LATE  ONSET AND SLOW PROGRESSION ESPECIALLY WITH MUTATIONS OF PEX 2, 10 AND 16.

Method: DESCRIPTION OF A CASE REPORT

Results: WE REPORT A CASE OF 12 YEAR OLD FEMALE BORN OF SECOND DEGREE CONSANGUINEOUS MARRIAGE, NOT CRIED IMMEDIATELY AFTER BIRTH, WITH DELAYED MOTOR AND LANGUAGE MILESTONES, WITH KNEE AND ANKLE CONTRACTURES, SEVERE SPASTICITY OF BOTH UL AND LL, CEREBELLAR ATAXIA, PENDULAR NYSTAGMUS, INTENTION TREMORS,HEAD TREMORS, SPASTIC AND CEREBELLAR DYSARTHRIA, TONGUE TIE, CRANIOFACIAL DYSMORPHISM, MILD PERIPHERAL NEUROPATHY. SIMILAR HISTORY IN YOUNGER SIBLING. SHE WAS A DIAGNOSTIC DILEMMA WITH NEGATIVE RESULTS FOR FRATAXIN GENE. VITAMIN E LEVELS AND ALFA FETOPROTEIN LEVELS WERE NORMAL.  MRI BRAIN SHOWED WHITE MATTER HYPERINTENSITIES SUGGESTIVE OF MILD LEUCODYSTROPHY. NERVE CONDUCTION STUDIES SHOWED MILD DEMYELINATING PERIPHERAL NEUROPATHY. WHOLE EXOME SEQUENCING SHOWED HOMOZYGOUS MUTATION IN PEX 16 SOLVING THE MYSTERY.

Conclusion: PEROXISOMAL BIOGENESIS DISORDERS USUALLY PRESENT IN EARLY NEONATAL AND INFANTILE PERIOD WITH SEVERE NEUROLOGICAL AND MULTISYSTEM ABNORMALITIES. NOWADYS THERE ARE EMERGING CASE REPORTS OF SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY WITH MUTATIONS IN PEX GENES. NEXT GENERATION SEQUENCING METHODS ARE OF GREAT HELP IN DIAGNOSING THESE DISORDERS. HIGH INDEX OF SUSPICION IS ESSENTIAL IN VIEW OF WIDE VARIATION IN CLINICAL SPECTRUM. FURTHER RESEARCH IS NEEDED TO FURTHER ELUCIDATE THE CLINICAL SPECTRUM, MOLECULAR DIAGNOSIS AND THERAUPETIC INTERVENTIONS FOR PATIENTS AFFECTED WITH PEROXISOMAL BIOGENESIS DISORDERS.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pex-16-expanding-the-clinical-spectrum-of-peroxisomal-biogenesis-disorders/