Dr.SreeLekshmy S Dr. Bhanu Vikraman Pillai, DrNavya George DrPraveena Bhaskaran
DrC Jayakumar
Three year old female child,2nd born of NCM 36weeks preterm 1.9kg birth weight presented with progressive abdominal distension of one week and fever and wet cough of 3days. Child had global developmental delay, seizure disorder and poor weight gain.
Child had microcephaly, nystagmus, Grade 3 Clubbing.
Weight, height and HC were less than -3SD. Abdominal examination revealed hepatomegaly (3cm below right costal margin).
Nervous system examination revealed hypertonia, power of 3+ in all limbs, brisk DTRs with bilateral extensor plantar.
Differentials :
1. TORCH infection
2. Primary familial brain calcification(Fahrs) disease
3Hypoparathyroidism
4Pseudo hypoparathyroidism
5Psudopseudo hypoparathyroidism
6Hypothyroidism
7Hyper thyroid Iam
8Lead poisoning
9CO poisoning
10Neurocysticercosis
11 Panthothenate Kinase associated neuro generation(PKAN)-Hallervorden Spatz syndrome
12 Neuro cysticercosis
13 TB
14HIV
Labs showed thrombocytopenia, transaminitis, hypoalbuminemia with AG reversal.
ANA showed 1+ positive (Mixed- cytoplasmic + nucleolar).
Autoimmune liver disease profile showed LC1 positive.
Liver Biopsy showed portal, periportal and incomplete bridging fibrosis with portal and periportal inflammation and rossetoid regeneration.
CT Brain revealed calcifications in bilateral basal ganglia and periventricular region.
Calcification in the bilateral basal ganglia
TORCH screen was negative.
VEP, EEG were abnormal.
WES done showed Homozygous variant in RNASEH2C gene leading to
Aicardi Goutieres syndrome. (AGS)
She was treated with oral steroids for autoimmune hepatitis, antibiotics and chest physiotherapy for Acute Lower Respiratory Infection.
Seizures was managed as per standard protocol.
Discussion:
Aicardi Goutieres syndrome (AGS), a rare genetic disorder with early onset progressive encephalopathy, significant intellectual disability, acquired microcephaly, dystonia, spasticity, typical findings of intracranial calcifications, sterile pyrexias, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia and chilblain lesions on the feet, hands, ears and sometimes more generalized mottling of skin.
Management include chest physiotherapy and vigorous treatment of respiratory infection.Adequate calorie intake and management of seizures.
Message:
In a child with hepatomegaly and progressive encephalopathy with intra cranial classification, rule out AGS once TORCH screen is negative.
Autoimmune hepatitis can be a manifestation of AGS