ESPN 51th Annual Meeting

ESPN 2018


 
Hypomagnesemia and Secondary Hypocalcemia Due To a A Novel TRPM6 Mutation
SARE GÜLFEM ÖZLÜ 1 ÇIĞDEM SEHER KASAPKARA 2 MERYEM ERAT NERGİZ 1 BAŞAK ALAN 1 SONGÜL YILMAZ 1 AYŞEGÜL NEŞE ÇITAK KURT 1 BÜŞRANUR ÇAVDARLİ 3

1- ANKARA YILDIRIM BEYAZIT UNIVERSITY, FACULTY OF MEDICINE, YENIMAHALLE TRAINING AND RESEARCH HOSPITAL,
2- DR SAMI ULUS MATERNITY AND CHILDRENS HOSPITAL
3- ANKARA NUMUNE TRAINING AND RESEARCH HOSPITAL
 
Introduction:

  Hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder which manifests in early infancy with generalized seizures, other symptoms of neuromuscular irritability and growth disturbances. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. Here we present an 8 months old Turkish boy with a novel mutation of TRPM6. 

Material and methods:

  An 8 months old boy; son of first degree cousins was hospitalized because of recurrent seizures.He had seizures since the newborn period and he had been treated with phenobarbital but there was no favorable response to therapy. His past history also revealed hypocalcemia detected on the newborn period but serum magnesium levels were not studied at that time. During hospitalization we detected hypocalcemia, hypomagnesemia, normal parathormon levels (but inappropriately low for the existing hypocalcemia). Abdominal ultrasound was normal. Magnesium excretion was slightly increased (0.65 mg/mg;magnesium to creatinine).  

Results:

 Considering the consanguinity of the parents and clinical features of the patients genetic testing of the TRPM6 gene was performed and a novel homozygous mutation was detected as c.3178A>T. He was started on magnesium and calcium supplementation and he is symptom-free for about 6 months.

Conclusions:

 

We would like to call attention to the measurement of serum magnesium levels during seizures of newborn and infantile seizures. TRPM6 mutations should be considered as part of differantial diagnosis especially when consanguinity exists. When detected appropriate magnesium supplementation is crucial and long term prognosis seems to be good.