1. By Anu Mohan T Second year MBBS

2. Name : Anurag Age : 2 months Sex : Male Place : Chittariparambu, Kannur Presenting Complaint : convulsions since 4 th day of birth. History of present illness : a)Recurrent attacks of convulsions b)Sudden in onset Past history : h/o neonatal jaundice 3 days after birth

3. Birth history Antenatal 1 st trimester : no h/o hyperemesis, fever, rash, infections. 2 nd trimester : no h/o recurrent abortions 3 rd trimester : no h/o systemic illness Natal history Normal vaginal delivery, no birth asphyxia, child weighs 3kg Post natal history No history of umbilical sepsis, cyanosis Developmental history : Normal Immunization history : Complete Diet history : On breast milk Family history : No consanguinity

4. GENERAL EXAMINATION Pallor : Absent Icterus : Absent Cyanosis : Absent Clubbing : Absent Lymphadenopathy : Absent Oedema : Absent VITALS Pulse : 116 beats per minute Respiratory rate : 42 breaths per minute Temperature : 100 F

5. SYSTEMIC EXAMINATION Respiratory System : Normal Cardiovascular System : Normal Gastrointestinal System : Normal Central Nervous System : Child has normal tone. No bulging of fontanelle. Reflexes are normal. INVESTIGATIONS S. Na – 134 mg/dl S. K – 3.9 mg/dl S. Ca – 5.7 mg/dl (N : 7mg/dl) S. Mg – 2.6 mg/dl CRP – negative Blood culture – yields growth of Klebsiella Pneumoniae

6. X – RAY - no conspicous findings CT SCAN - shows prominence of sulci on left side MRI - Hypoplasia of corpus callosum

8. Patient was treated with antibiotics and phenytoin. He persistently suffered from recurrent seizures in spite of this treatment and there was no particular change in serum calcium level. S. Ca on 18.1.2010 – 5.7mg/dl 19.1.2010 – 6.1mg/dl 21.1.2010 – 5.4mg/dl 22.1.2010 – 6.5mg/dl 23.1.2010 – 6.1mg/dl Injection calcium gluconate did not correct the hypocalcemia. So causes of treatment resistant hypocalcemia was considered, which included:- Hypoparathyroidism Hypomagnesimia

9. HYPOCALCEMIA Defined as total serum calcium concentration of less than 8.5mg/dl in children, less than 8mg/dl in term neonates and less than 7mg/dl in pre term neonates. Calcium has important biological functions :- i.Calcium messenger system by which extra cellular messengers regulate cell function. ii.Activation of several cellular enzyme cascades iii.Smooth muscle and myocardial contraction iv.Nerve impulse conduction v.Secretory activity of exocrine glands

10. Incidence In united states – 3o% of infants with very LBW. 89% of infants whose gestational age at birth is less than 32 weeks infants of mothers with DM infants with birth asphyxia Mortality : Higher mortality rate in children with hypocalcemia Sex : no variation Age : most pediatric patients with hypocalcemia are newborns. In older children it is usually associated with critical illness – acquired hypoparathyroidism, defects in vitamin D metabolism.

11. From history New borns : Possibly no symptoms, lethargy, poor feeding, vomitting, abdominal distension. Children : seizures, twitching, cramping, laryngospasm CAUSES Early neonatal hypocalcemia Prematurity Diabetes mellitus IUGR Birth asphyxia Late neonatal hypocalcemia Exogenous phosphate load Magnesium deficiency Hypoparathyroidism due to other causes Gentamicin use

12. Hypocalcemia in infants and children Hypoparathyroidism – Aplasia or hypoplasia Parathormone receptor deficits Autoimmune parathyroiditis Infiltrative lesions Idiopathic Abnormal vit D production or action Vit D deficiency Disorders of vitamin D metabolism Liver disease Hyperphosphatemia Excessive phosphate intake Loading in total parentral nutrition Renal failure Others Malabsorption syndrome, pancreatitis, pseudohypocalcemia

13. AGENESIS OF CORPUS CALLOSUM ACC is a rare birth defect in which there is complete or partial absence of corpus callosum. Morphologically, there are 2 types : ACC Type 1 : axons are formed but they fail to cross the midline.They form large aberrant fibre bundles known as Probst bundles. ACC Type 2 : axons fail to form – no Probst bundles

14. Signs and Symptoms Vision impairments, hypotonia, poor motor co ordination, delay in motor milestones – sitting and walking, low perception of pain, delayed toilet training, chewing and swallowing difficulties. Difficulty in transferring complex information from one hemisphere to another, cognition even though IQ is normal. Seizures, early feeding difficulties, gastric reflex, hearing impairments, abnormal head and facial features, mental retardation are other symptoms.

15. Associated syndromes and conditions Andermanns syndrome, Shapiro’s syndrome, Acrocallosal syndrome, Septo-optic dysplasia, Mowat – Wilson syndrome. Metabolic disorders, fetal alcohol syndrome, orofacial abnormalities. ACC maybe - complete, partial or atypical. Complete – corpus callosum is totally absent. Partial (hypoplasia) – anterior portion (post genu and ant body) formed but the post portion (post body and splenium) is not formed. Atypical – ant to post formation is not respected

16. THANK YOU