Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a rare metabolic disorder caused by a deficiency in SPL,final enzyme in sphingolipid degradative pathway.Biallelic SGPL1 gene mutations are associated with RENI syndrome(OMIM: 617575) which is an autosomal recessive form of steroid-resistant nephrotic syndrome with multisystemic findings. Most individuals have focal segmental glomerulosclerosis in infancy or early childhood.It also may be seen primary adrenal insufficiency, ichthyosis, acanthosis, immunodeficiency and neurological disorders (sensorineural hearing loss, peripheral neuropathy, developmental delay, ataxia, epileptic seizures). A 19-month-old female patient was admitted to the hospital with complaints of outward deviation and pitosis of right eye. She had no previous history of trauma and had infection.On examination,there were signs of right oculomotor nerve palsy but other neurological examinations were normal. Cranial MRI revealed pathological contrast enhancement in bilateral 3rd,5th nerves and expansion in right 3rd nerve.Spinal MRI showed contrast enhancement on lower thoracic spinal cord and at conus level. Additionally,calcification was observed in the central parts of both adrenal glands.No pathology was found in cerebrospinal fluid tests and EMG. She had proteinuria in complete urinalysis.Infection panels, hormone and metabolic tests were normal.Steroids were given, and when steroid was tapered off,outward gaze and ptosis were observed in left eye.Autoimmune encephalitis panel was sent.She received IVIG due to both oculomotor nerve palsies.WES has been requested and resulted as biallelic SGPL1 gene mutation. Since there is no case reported in literature that started with oculomotor nerve palsy,we wanted to emphasize this rare syndrome and this new finding we had with this case report.

Esra Ozpinar
medipol mega university hospital
Turkey

Betul Kilic
medipol mega university hospital
Turkey

Mehmet Palaz
medipol mega university hospital
Turkey

Akif Ayaz
medipol mega university hospital
Turkey

Yasemin Topcu
medipol mega university hospital
Turkey

Kursad Aydin
medipol mega university hospital
Turkey