Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with Lennox-Gastaut syndrome.

Clinical Meeting on "Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with Lennox-Gastaut syndrome.
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1. Welcome to Clinical Meeting Dr. Shubhra Prakash Paul MD (Ped.) Part III Bangladesh Institute of Child Health

2. Name Ahian Age 1year 8months Sex Male Residence Shahjahanpur , Badda Date of Admission 27/05/2017 Date of Examination 02/6/2017 Informant Mother Particulars of the Patient

3. Increased frequency of convulsion for 3 days No neck control till date Stiffness of all 4 limbs from 3 rd month Presenting Complaints

4. According to the statement of informant mother, her child was delivered normally at term at a clinic following home trial and prolonged labor. Baby cried about 30 minutes after birth. Then there developed convulsion within few hours of birth. With these complaints she admitted her child in a local hospital and discharged after control of convulsion with syp. Phenobarbitone. History of Present Illness

5. The baby was relatively stable up to 3 months of his age. Then he developed repeated convulsion, which was sudden jerky contraction of neck, trunk and extremities, more in awakening, occurring 8-10 times a day, persisting for 2-3 minutes in each episode. She also noticed that her child had not achieved neck control yet and stiffness of all limbs from 3 months of age. History of Present Illness (contd. ..)

6. For these complaints the baby was on oral drugs and under regular follow up at neuro-disability clinic of a tertiary level hospital. For last three days Ahian developed high grade intermittent fever which subsided after taking antipyretics. The frequency of convulsion increased up 14-16 times a day. As the number of convulsion increased they admitted him for further evaluation and management. History of Present Illness (contd. ..)

7. There is no significant past illness. History of Past Illness He had no history of neonatal jaundice or any sib death. History of Present Illness (contd. ..)

8. Birth History Antenatal Mother was on irregular antenatal checkup. There was no history of maternal fever with rash, jaundice, Urinary Tract Infection, PROM, PIH or GDM. Her blood group was A positive.

9. Birth History Natal Ahian was delivered normally at a clinic following failed home trial. He cried 30 minutes after birth and developed generalized convulsion for which he was admitted in a SCABU of a local hospital.

10. Birth History (contd..) Postnatal Ahian stayed 7 days at that hospital, then discharged after control of convulsion. He passed meconium and voided urine on 1 st day.

11. Feeding History After birth, during hospitalization Ahian was on IV fluid and N/G tube feeding for first 4-5days. Then breastfeeding was started and continued up to 9 months of age, followed by complementary family food. Immunization History Immunization is ongoing as per EPI Schedule.

12. Milestone of Development Social smile present and can recognize mother but no interaction. No neck control achieved. No babbling , only crying sound.

13. Treatment History During infancy he was treated with oral phenobarbitone after discharge from hospital. He was receiving Syp. Levetiracetam, Syp. Valproate and Syp. Carbamazepine as prescribed by the outpatient dept. of neuro-disability clinic prior to admission. After admission anti epileptic drugs were continued and some injectable antibiotics were added.

14. Family History He is the third issue of his non- consanguineous parents. Other sibs and family members are healthy. Socioeconomic History His father is a automotive driver and his monthly income is about tk. 20,000/-. His mother is a housewife.

15. Ahian , 1yr 8 months old male infant

16. Physical Examination General Examination Appearance Alert, playful, no facial asymmetry Anemia Mildly pale. Jaundice Present. Cyanosis Edema Dehydration Absent Koilonychia Leukonychia

17. General Examination (contd.) Skin Survey BCG mark Present Lymph nodes Not palpable E.N.T. Normal Fontanelle Closed Sign of Meningeal irritation Absent Physical Examination (contd.)

18. Physical Examination ( contd …) General Examination (contd.) Vitals Pulse 110/min. BP 80/55 mm of Hg (50 th centile) Resp. Rate 2 /min. Temperature 99 F

19. Physical Examination ( contd …) General Examination (contd.) Anthropometry Length 78 cm Weight 9.5 kg OFC 41 cm (-) 3SD Weight for Age SD Length for Age SD Weight for Length SD

20. Systemic Examination Examination of Nervous System Higher psychic function Conscious but no interaction to the surroundings Cranial nerves examination Pupil was normal in size and shape, reacting to bright light and eye moves in all direction Light Reflex : Normal in both eye Fundoscopy : Normal

21. Systemic Examination Examination of Nervous System Cranial nerves examination (contd.) No facial asymmetry No drooling Normal sucking and swallowing

22. Systemic Examination Examination of Nervous System ( contd …) Motor Function Muscle bulk Normal in all 4 limbs Muscle tone Increased in all 4 limbs, more in upper limbs Muscle power 3/5 in all 4 limbs Jerks Exaggerated in all 4 limbs Plantar Bilaterally extensor Ankle clonus Present(Bilateral )

23. Systemic Examination Examination of Nervous System ( contd …)

24. Systemic Examination Examination of Nervous System ( contd …)

25. Systemic Examination Examination of Nervous System ( contd …) Involuntary movement : Absent Sensory function : Intact Neurodevelopmental assessment Gross motor Pull to sit Head lag present Prone position Chin could not lift Fine motor Could not hold object even placed in hand and occasional fisting and release of hand

26. Systemic Examination Neurodevelopmental assessment (contd..) Vision Fix and follow bright light Hearing Alert on rattle sound Speech No babbling, crying only Cognition No social smile Could recognize mother’s lap, touch and voice Developmental age corresponds to below 3 months

27. Systemic Examination Examination of other systems including respiratory system revealed normal findings.

28. Ahian , a 1 year 8 months old developmentally delayed male child 3 rd issue of non-consanguineous parents presented with the complaints of discrete myoclonic seizures with no neck control till date and stiffness of all limbs from 3 months of age. He had a history of perinatal asphyxia with HIE II. He had no history of neonatal jaundice, sib death or any significant maternal illness during pregnancy . Salient Features

29. He was not interested to the surroundings, having microcephaly and mild pallor. Vitals were normal. He was mildly under weight and stunted. He had hypertonia, hyperreflexia, bilateral plantar extensor with ankle clonus present. Developmentally he corresponds to below 3 months, with impairment of vision and hearing. Salient Features (contd.)

30. Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with epilepsy. Provisional Diagnosis

31. Neurometabolic disease Differential Diagnosis

32. Complete Blood Count (28/05/2017) Hemoglobin 8.1 gm/ dL Total count of WBC 3,100 /cu mm Diff. count of WBC N - 50% L – 44% M - 04% E – 02% Platelet count 4,23,000 /cu mm Laboratory Investigations

33. Complete Blood Count ( contd ….) Film RBC – Anisopoikilocytosis including both macrocytes, microcytes, some pencil shaped cells and a few target cells seen. WBC – Mature Platelets – Adequate. Comment Features suggestive of combined deficiency anemia with leucopenia. Laboratory Investigations

34. CSF study (27/05/2017) Physical Examination Color Watery Appearance Clear Cytology Total Leucocyte 02/mm 3 (100% Lymphocyte) RBC 00/mm 3 Biochemistry Protein 20 mg/ dL Sugar 80 mg/ dL Staining No Gram or Ziehl-Neelsen stained organism found. Laboratory Investigations

35. (27/05/2017) RBS 4.2 mmol /L Serum Calcium 2.1 mmol /L Urine R/M/E Normal study Serum Electrolytes ( mmol /L) Na + K + Cl - 141.5 5.2 100.5 (19/07/2016) TSH 1.82 mIU /L (0.47 – 5.01mIU/L) T3 1.65 nmol/L (1.21 – 3.08 nmol/L) T4 146.53 nmol/L (62.5 – 158.5 nmol/L) Laboratory Investigations

36. Laboratory Investigations

37. Laboratory Investigations

38. Laboratory Investigations CT Scan of Brain No evidence of hemorrhage, infarct or mass lesion is seen in the both cerebral hemispheres. 3 rd and both lateral ventricles are dilated. External CSF spaces are widened. Impression: Generalized cerebral atrophy.

39. Laboratory Investigations

40. Laboratory Investigations EEG (05/06/2017) Comments: The EEG record shows severe abnormalities with slow spike wave discharges and burst-suppression pattern of discharges. Background also shows polymorphic activities and poverty of reactivities to external stimuli. The feature is suggestive of Epileptic Encephalopathy and compatible with Lennox- Gastaut syndrome.

41. Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with Lennox- Gastaut syndrome. Final Diagnosis

42. Restoration of attainable functional abilities Aims of Management

43. Management Multidisciplinary team approach

44. Management Counseling Counseling of Parents and caregiver It is not a mental illness Not a progressive disease Not a curable disease Child’s disability can be minimized and improving the quality of life with proper management He needs life long management support.

45. Management Drug Therapy

46. Management Other measures Developmental therapy and stimulation Vision and hearing assessment Psychological assessment Family support and follow up

47. Thank You