Dr.Venkatesh Kumar M, Dr.C.Jayakumar ,Dr.Praveena Bhaskaran, Dr.Navya George
AIMS KOCHI
Three month old extremely preterm ba( 27 weeks+2 days), 3rd of triplet born IVF pregnancy presented with recurrent non bilious vomiting of 3 weeks duration .She had a stormy neonatal period with respiratory distress, conjugated hyperbilirubinemia, fungal and MRSA sepsis, anaemia of prematurity(received 5 blood transfusions), Osteopenia and ROP. There is also history of weight loss of 180 gm in the past 2 weeks. Ba was pale with mild icterus,and had low set ears and frontal bossing . Auxology showed Microcephaly(HC:25 cm that is below 3rd percentile),low weight( 1.9kg-below 3rd percentile) and height(45cm-below 3rd percentile) for age. Systemic Examination of the eye revealed oil drop cataract, but no chorioretinitis ,distended abdomen, umbilical hernia and hepatomegaly.
Labs: Hb-9 gm/dl, Tc:13.96 Ku/ml, N:21.4%, L:65%, SGOT:153 IU/L, SGPT: 99.91 IU/L, TSB: 4.18, DSB:3.17,
Differentials considered were
1.Biliary atresia
2.Galactosemia,
3.TORCH infections,
4.Inborn errors of metabolism
5.Pseudo-TORCH syndrome.
LFT showed direct hyperbilirubinemia with mild transamnitis ,elevated ALT but normal GGT.HIDA scan showed good uptake and excretion of dye.Neurosongram showed right temporoparietal peripherally placed multicystic lobulated lesion is unusual in location for cystic periventricular leukomalacia.MRI Brain showed Cystic encephalomalacia changes at the right frontal and parietal region in the right MCA territory).Due to oil drop cataract and direct hyperbilrubinemia, Galactosemia and other inborn errors of metabolism were considered,breast feeds were switched to soy-based lactose free formula feeds and metabolic screening was sent and found to be normal.Since Serlogy for TORCH was negative,differential of Pseudo-TORCH was considered and Genetic study(Whole exon sequencing) was done which showed STAT-2 mutation(Heterozygous) confirming the diagnosis of Pseudo-TORCH syndrome(Interfernopathy).
Vit-A,D,E & K was given as child had direct hyperbilirubinemia .Direct breast feeds was restarted as the metabolic screening was negative.
MRI Brain-showing Cystic periventricular encephalomalacia.
Discussion– Pseudo-TORCH syndrome(PTS) also known as ‘Band-like calcification with simplified gyration and polymicrogyria’ is an autosomal recessive condition characterized intracranialcalcification,polymicrogyria,hepatosplenomegaly, microcephaly,thrombocytopenia and aberrant neurological behavior in neonate. It is an umbrella term composed of several syndromes caused different genetic defects and pathological mechanisms. Depending upon the defective gene,there are 3 types of Pseudo-TORCH syndrome.The most common mimicker of PTS is Aicardi-Goutieres syndrome(AGS) characterised progressive neurological dysfunction, acquired microcephaly, CSF lymphocytosis, Leukodystrophy. Pseudo-TORCH syndrome-1(PTORCH-1) is an autosomal recessive disorder with mutation in gene encoding occludin (OCLN) characterised early-onset infantile seizures,developmental delay, spasticity,microcephaly and intracranial calcifications.Pseudo-TORCH syndrome-3(PTORCH-3) is an autosomal recessive condition caused sequential variation in STAT2 gene(Signal Transducer and Activator of Transcription) and the affected infants have developmental delay with acute episodes of fever and multisystem organ involvement.
Take home message– Considering diagnosis of Pseudo-TORCH syndrome in children with neonatal microcephaly and intracranial calcification is necessary , since an early diagnosis may allow
