April 2019 digital edition

intensive palliative care unit. To make
matters worse, she developed Steven
Johnsons syndrome, which is often a side
effect of many anti-epileptic drugs. Steven
Johnsons syndrome was treated via standard
intravenous immunoglobulin. She was at her
worst cognitive condition when the genetic
test results arrived. The results indicated
2 mutations in the carbamoyl-phosphate
synthetase 2, aspartate transcarbamylase,
and dihydroorotase (CAD) gene, indicative of
early infantile epileptic encephalopathy-50.
Early infantile epileptic encephalopathy-50
is characterized by early-onset seizures
and severe developmental regression as
seen in Mallika. It is an autosomal recessive
progressive neurodegenerative disorder
EARLY INFANTILE EPILEPTIC
ENCEPHALOPATHY-50 IS
CHARACTERIZED BY EARLY-
ONSET SEIZURES AND SEVERE
DEVELOPMENTAL REGRESSION
that occurs due to mutations in the CAD
gene. The CAD gene encodes an enzyme
required for the biosynthesis of pyrimidine
nucleotides. Such a condition has been
shown to be treatable by oral uridine.
Uridine is not available in the Indian market
and had to be bought through Amazon. Dr.
Kulkarni reminisces that it took over a month
to procure the drug, however, the effects
were immediate. Within 48 hrs of starting
oral uridine, Mallika’s seizures reduced and
refractory status epilepticus was aborted.
Today, Mallika is only on 2 antiepileptic
drugs in addition to oral uridine, and while
she is not yet cognitively normal, she is able
to walk, and her speech is slowly recovering.
Dr. Kulkarni would like to stress on the
benefits of genetic testing, how this has
revolutionized precision medicine for rare
disorders, and how it is important to keep
pursuing the right diagnosis to identify the
right treatment options.
DR SHIVANEE SHAH
April 2019 / FUTURE MEDICINE / 49