infantile tremor syndrome ( its ) is a clinical syndrome of acute or gradual onset of mental and psychomotor changes , pigmentary disturbances of hair and skin , pallor , and coarse tremors in malnourished children aged between 5 months and 3 years .
it has been primarily reported from india and south east asia and has also been reported from other developing countries in asia and africa .
various nutrient deficiencies ( e.g. vitamin b12 , magnesium [ mg ] , zinc [ zn ] , vitamin c , etc .
clinically the presence of tremor has been attributed to structural and functional alterations of extrapyramidal system , but routine neuroimaging studies with computed tomography ( ct ) scan and magnetic resonance imaging in past revealed non - specific structural changes in its . here , we report a classical case of its with a rare association of thin corpus callosum . to the best of our knowledge ,
a 5.5-month - old female infant presented with pallor for 1-month , tremors of hands and feet for 2 days and delayed development .
there was no history suggestive of fever , bleeding , rash , lymphadenopathy , hepatosplenomegaly , jaundice , or seizures .
the child was born at term gestation with no antenatal , natal , or postnatal complications .
the child weighed 5.5 kg , had a length of 66 cm and head circumference of 41.5 cm . on physical examination , the child had sparse hair , pallor , and hyperpigmented knuckles [ figure 1 ] .
there were coarse tremors in all four limbs , the perioral and periorbital region in awake as well as sleep state [ video 1 ] .
there was increased tone in all 4 limbs , but no paresis of limbs or cranial nerve palsies .
investigations revealed anemia ( hemoglobin = 6.6 g% ) , mean corpuscular volume ( mcv ) ( 103.7 fl ) , mean corpuscular hemoglobin ( mch ) ( 38 pg ) , mch concentration ( 37.4% ) , with normal leucocyte count ( 11,400/mm ) , and platelets ( 4 lakh / mm ) .
serum b12 level was 202 pg / ml ( 200900 pg / ml ) and serum folic acid was 6.3 ng / ml ( 521 ng / ml ) .
cerebrospinal fluid ( csf ) examination revealed no red blood cells or neutrophils , normal protein , sugar , and sterile cultures .
ct scan of the brain revealed cerebral atrophy with thin corpus callosum [ figures 2 and 3 ] .
dull looking facial expression along with hypopigmented sparse hairs and pallor in a child of infantile tremor syndrome computed tomography scan showing diffuse cerebral atrophy computed tomography scan showing diffuse cerebral atrophy along with thin corpus callosum based on the clinical features , child was diagnosed as its .
initially , we have given her propranolol , b12 , mg , and multivitamins , but there was no improvement in her condition .
then , we started carbamazepine after 4 days and a dramatic response was observed after 7 days , as appetite improved , tremors disappeared during sleep and decreased in amplitude in the awake state .
after 1-month of follow - up , the child is active , gaining weight ( 6 kg ) , hemoglobin has improved ( 9.4 g% ) , and tremors stopped .
after 2 months of follow - up , propanol and carbamazepine have been tapered and stopped .
a classical picture of its is a plump looking infant between 6 and 18 months with the presence of malnutrition .
dark pigmentation is present over dorsal aspects of hands , nail folds , feet , knees , ankles , buttocks , and axillae .
they are more prominent in distal parts of limbs , head , face , and tongue .
there is presence of anemia , which may be macrocytic , microcytic , or normocytic .
malnutrition , vitamin and mineral deficiency ( e.g. , mg and zn ) , infections , toxins , degenerative brain disease , enzyme defects ( e.g. , tyrosine ) all have been postulated as the causation of its . among various theories ,
it is usually seen in children who are exclusively breast - fed for prolonged periods by vegetarian mothers .
the low levels of vitamin b12 and its transport protein transcobalamin ii ( tc ii ) in the csf maybe responsible for the neurological features of this syndrome .
it is usual to find direct or indirect evidence of associated other nutritional deficiencies such as protein , vitamins a , d , c , and b - complex and other micronutrients .
its is essentially a clinical diagnosis with peripheral smear suggestive of anemia ( mostly megaloblastic anemia , macrocytosis ( mcv > 95 ) , hypersegmented polymorphs , and megaloblastic bone marrow ) .
vitamin b12 levels in the mother may also be low suggesting low levels in the breast milk .
most reports have shown normal neuroimaging findings or cerebral atrophy , ventricular prominence and/or prominence of the subarachnoid space , pontine myelinolysis , and cerebral hyperintensities . in our case ,
thin corpus callosum is usually present in premature babies and is associated with poor neurological outcome and neuropsychological performance , but our case was delivered at term gestation and her antenatal , natal , and postnatal course was uneventful . to the best of our knowledge
multivitamins , vitamin c , iron , protein , zn , and mg supplements may also be necessary .
if the tremors are severe , phenobarbitone or carbamazepine may be required to decrease the intensity .
initially , there is a gradual reduction in the amplitude and severity , and then the tremors become intermittent and finally stop . propranolol and chlorpromazine
 infantile tremor syndrome ( its ) is a clinical disorder characterized by coarse tremors , anemia and regression of motor and mental milestones , presenting in malnourished children aged between 5 months and 3 years . 
 few reports of neuroimaging abnormalities in children with its are present . 
 the most common finding of neuroimaging in its is cerebral atrophy with ex - vacuo enlargement of ventricles and subarachnoid space , some recent reports also showed pontine myelinolysis and cerebral hyperintensities . we did not find any report of thin corpus callosum associated with its in the literature 
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Introduction
Case Report
Discussion
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