West syndrome

Epileptic spasm

1. Welcome to Clinical meeting Presenters : Dr. Maimuna Sayeed Dr. Aysha Sabiha Resident - Phase A Paediatric Gastroenterology & Nutrition

2. Particulars of the patient Name : Laam Age : 09 Months Sex : Male Address : Chanpara, Jhinaidah Date of admission : 11.03.2017 Date of examination : 11.03.2017 Informant : Mother

3. Presenting complaints Recurrent episodes of seizure for 1 month . Can not sit yet .

4. History of present illness According to the statement of the informant mother, her child was reasonably well 1 month back. Then he developed recurrent episodes of seizure which was manifested by sudden symmetrical contraction of all four limbs toward s the trunk followed by slow relaxation of limbs. The seizure occurred more after awak en ing from sleep and was followed by crying. The seizure occurred in clusters 2-3 episodes per day and 3-6 spasms per episodes.

5. History of present illness(cont.) Spasms were not associated with any bowel bladder incontinence or loss of consciousness. These spasms aggravated for last 7 days. Mother also complain ed that her child can not sit yet independently. He had no H/O fever, trauma , vomiting, abnormal urine or body odor. With the above complaints he wa s admitted here for evaluation and management.

6. Birth history Antenatal : M o ther was on regular antenatal check up. She had no H/O Fever, r ash , HTN, DM , but had H/O UTI in 1 st trimester. Natal : LUCS at 37 th weeks of gestation due to PROM for 2 days. No h/o delayed crying after birth. Birth weight was 3kg. Postnatal : There was no h/o neonatal sepsis, seizure.

7. Feeding history He was on formula feeding from his 1 st day of life along with breast feeding for 6 months, now he is on complementary feeding.

8. Developmental history Gross motor : Neck control at 6 month Fine motor & vision: reaches out for toys at 6 months Hearing & speech: turns head towards sound in delayed fashion since 7 month of age Cognition: Social smile at 3 month

9. Past illness He has h/o seizure at 1½ month of age, 2-3 times per day, which was tonic in nature, characterized by turning of head towards one side and tightening of all 4 limbs. which was not followed by unconsciousness. Neither was not associated with fever. And it was stopped after 1 month when he was treated with AED.

10. Treatment history He was treated with sodium valproate till 6 months of age along with Piracetam and Phenobarbitone up to 8 months of his age. He also took Syp . Prednisolone for last 7 days.

11. Immunization history Immunized as per EPI schedule till date.

12. Family history H e is the only issue of his non- consanguin e ous parents. No h/o still birth, affected family members. Socio economic history He belongs to below middle socioeconomic background. Father is a service holder, mother is home maker.

13. Physical examination

14. General examination Appearance: Conscious, playful, active Pallor Jaundice Cyanosis Dehydration Absent Clubbing Koilonychia Leukonychia Edema

15. General examination (cont) BCG mark: Present Skin survey: Normal Lymph nodes: Not palpable Fontanelle : Ant. fontanelle is open, not bulged. Signs of meningeal irritation: Absent Back & spine: Normal Ear, nose, throat: normal

16. General examination (cont) Vital Signs: Temperature : 9 8 ° F Pulse : 120 b/min Respiratory Rate : 32 breaths / min Blood Pressure : 80/30 mm Hg

17. General examination (cont) Anthropometry Length : 74 cm (Lies between 50 th and 75 th centile) Weight : 10 Kg (Lies on 75 th centile) OFC : 42 cm (Lies between 3 rd centile)

18. Developmental assessment Gross motor: neck control present (3 months) Fine motor: lessening of clenching (2 months) Vision: fix and follow (6 week) Hearing: sluggish respond to sound (4 months) Speech: says monosyllable (8 months) Cognition: Social smile-present (6 weeks)

19. Developmental assessment (cont) Primitive reflex- Moro reflex: absent rooting reflex: absent sucking reflex: absent palmar grasp : absent plantar grasp : absent

20. Systemic examination

21. Nervous system Higher psychic function: Conscious, playful and active Cranial nerves: Cranial nerves are intact as far could be examined.

22. Motor function Upper Limb Right Left Bulk Normal Normal Tone Normal Normal Power 5/5 5/5 Deep Reflexes(biceps, triceps, supinator) Normal Normal Involuntary movements Absent Absent

23. Motor function Lower Limb Right Left Bulk Normal Normal Tone Normal Normal Power 5/5 5/5 Deep Reflexes(knee jerk, ankle jerk) Normal Normal Plantar Extensor Extensor Involuntary movements Absent Absent

24. Nervous system (cont.) Sensory Functions : Intact as far could be examined. Cerebellar Functions Test : Intact as far could be examined. Gait: Not applicable.

25. Respiratory system Inspection: Respiratory Rate: 32 breaths/min Shape of the chest: Normal Chest Movement: Symmetrical Palpation: Trachea: Centrally Placed Chest Expansibility: Symmetrical Percussion: Percussion Note: Resonant all over the chest. Auscultation: Breath Sound: Vesicular with no added sound

26. Cardiovascular System Inspection: No visible pulsation Palpation: Apex Beat: Located in the Left 4 th ICS, lateral to the midclavicular Line. Thrill: Absent Left Parasternal Heave: Absent Palpable P2: Absent Auscultation: Heart Sound: 1 st and 2 nd heart sounds are audible in all the four areas with no added sound.

27. Gastrointestinal System Oral cavity : Healthy Abdomen proper : Inspection: Abdomen was distended Umbilicus centrally placed with transverse slit No visible peristalsis or pulsation Palpation: Abdomen was diffusely tender No organomegaly Fluid thrill present Percussion : Shifting dullness not done Auscultation : Bowel sound was sluggish

28. Locomotor system Look: No joint swelling No redness No deformity or periarticular muscle wasting. Feel: Local temperature: normal Joint tenderness: absent Move: Joint movement was not restricted

29. Salient feature Laam , a 9 month old boy, only issue of non consanguineous parents, partially immunized presented with the complaints of epileptic spasm for 1 month. The spasm occurred in clusters of 2-3 episodes per day and 5-6 spasms per episode, aggravated for last 7 days. He had h/o generalized seizure at his 1½ month of age, which stopped after 1 month with AED. He has delayed developmental milestone in all domain and there was no further achievement during last 1 month.

30. Salient feature (cont) There is no H/O fever, trauma, drowsiness, vomiting, abnormal urine or body odor. Baby was born at term by LUCS with birth weight 3 kg and no h/o delayed cry. On examination, Laam found conscious, active, playful, vitals within normal limit, anthropometrically well thriving except microcephaly, neurological examination revealed no abnormality except he was less interest to surrounding, other systemic examination were normal.

31. Provisional Diagnosis ?

32. Provisional Diagnosis West Syndrome with Global Developmental Delay

33. West Syndrome Points in favour Points in against Suggestive age Typical seizure type (epileptic spasm) Developmental delay .

34. Investigation

35. EEG Comment: suggestive of modified hypsarrhythmia

36. CT scan of brain Impression: Suggestive of bilateral old infarcts with bilateral cerebral atrophy may be due to birth asphyxia

37. Investigation(cont) CBC Hb ESR WBC RBC Platelet DC 14.5 g/dl 15 mm in 1 st hr 14x 109/L 5.39x1012/L 400x109/L N 20%, L 70%, M 02%, E 08% Urine R/M/E Pus cell RBC Ketone body 0-2/HPF Nil Absent

38. Investigation(cont) Investigation S. Electrolyte Na K Cl TCO2 136 mmol/L 4.6 mmol/L 103 mmol/L 24.2 mmol/L S. creatinine 0.10 mg/dl RBS 5.2 mmol/L S. Lactic acid 4 mmol/L Plasma ammonia 37 umol/L

39. Treatment: Counseling. Inj . ACTH 40 IU IM once daily . Syp . Ranitidine. Developmental therapy. Monitor vital sign s regularly.

40. Follow up on day 5 (1 5 .03.17) Subjective Objective Assesment Plan Vomiting for 1 time H/o inconsolable cry Pt was conscious Vital signs Temp-98.4 F RR38-b/min Pulse-120/min BP- 120/85 mmHg (SBP >99 DBP > 99 th ) Ant. Fontanelle-open Lungs: clear Heart: S1+S2+O Abd:soft, non tender Motor examination- Tone: normal Jerks: normal Planter: extensor HTN Start antihypertensive

41. Follow up on day 10 ( 20 .03.17 ) Subjective Objective Assesment Plan No new conplaints Seizure 1 episode in last 24 hr Pt was conscious Vital signs Temp-98 F RR3 2 b/min Pulse-1 16 /min BP- 125 / 80 mmHg (SBP > 9 9 th DBP 95 th -99 th ) Ant. Fontanelle-open Lungs: clear Heart: S1+S2+O Abd:soft , non tender Motor examination- Tone: normal Jerks: normal Planter: extensor HTN Reduce dose of ACTH Increase dose of antihypertensive

42. Eye evaluation Optic disc - pale (left>right) Fundus – chorioretinal patchy change on both eye Advice: TORCH screening

43. Subsequent follow up Clinical General condition Response to drug Side effects of drugs Investigations CBC S . Electrolytes RBS

44. Thank you