long case on motor neuron disease by Dr. Dipti

long case on motor neuron disease

1. LONG CASE Dr. Dipti Prakash Mohapatra Post Graduate Student P.G. Department of Medicine S.C.B. Medical College & Hospital

2. Patients Name:- Bhumisuta Bhoi Age –60 yrs. Sex - Female Address- Padampur Occupation- Housewife Date of admission – 02-11-2021. Date of examination- 10-11-2021

3. CHIEF COMPLAINTS Weakness and thinning of left upper limb for 6 months Difficulty in speaking for 6 months with dysphagia. Weakness and thinning of right upper limb and right lower limb for 5 months. Weakness and thinning of left lower limb for 5 months Twitching movement over all the limbs for 2 months Difficulty in rolling on bed for 2 months Difficulty in respiration for last 1 month

4. HISTORY OF PRESENT ILLNESS The patient was apparently alright 6 months back. To start with- She developed insidious onset and gradually progressive weakness of left upper limb in a manner that she was unable to hold a glass of water or mix her food, difficulty in combing hair. For last 5 months she developed similar weakness in right upper limb. She developed difficulty in speech with nasal intonation of voice for 6 months which was insidious in onset and gradually progressive. She also developed difficulty in swallowing with nasal regurgitation of food.

5. HISTORY OF PRESENT ILLNESS For last 5 months she developed weakness of right and left lower limb which is again insidious and progressive. She was unable to get up from sitting position started waddling while walking and found difficulty in climbing stairs. She has difficulty gripping slipper though she has no difficulty in sensing it. She experienced difficulty in turning on bed for last 2 months. For last 1 month she had mild difficulty in breathing with worsening of pre-existing symptoms.

6. HISTORY OF PRESENT ILLNESS Patient’s family members noticed fine involuntary twitching movements over arm and forearm for last 2 months. She has no history of any root pain, tingling or numbness. No history of fecal or urinary incontinence or retention. No history of any fever, night sweat, cough or hemoptysis No history of loose stool. No history of any emotional disturbances.

7. HISTORY OF PAST ILLNESS The patient was vaccinated for covid-19 6 months back. She has no history of diabetes, hypertension or thyroid disorders.

8. PERSONAL HISTORY Belongs to average socioeconomic group Mixed indian diet Married and blessed with a daughter and 2 sons Bowel and bladder are regular, sleep is adequate. N on-alcoholic, non-smoker. FAMILY HISTORY No history of similar illness in the family. No family history of diabetes mellitus, hypertension and tuberculosis

9. TREATMENT HISTORY She was treated at VIMSAR, BURLA for this condition with multivitamin and baclofen. Now she is admitted to Department of Neurology, SCB MCH, Cuttack under treatment.

10. GENERAL EXAMINATION Patient is conscious and well oriented to time, place and person Thin body built with generalized muscle wasting . Weight = 56 kg Height = 164 cm No pallor, Icterus , Cyanosis, Clubbing, edema, Lymphadenopathy JVP is not raised No thyromegaly Skin, Hair & Nail – normal No neuro cutaneous marker present BMI-20.8 KG/M2

11. Pulse : 88/min, regular, normal in volume & character. No radio-femoral or radio-radial delay, All peripheral pulses are well felt, arterial wall is just palpable. Blood Pressure : 130/80 mm of Hg Right arm supine position. Respiratory rate : 18 /min , thoraco-abdominal. Temperature - 98.6° F.

12. EXAMINATION OF CNS HIGHER FUNCTION: Conscious, Oriented to time, place and person. Speech: Dysarthria with hypernasality of voice Normal memory and intelligence. No delusion, hallucination. Right handed person.

13. EXAMINATION OF THE CRANIAL NERVES Olfactory nerve : Sense of smell is intact No parosmia No anosmia. Optic Nerve : Fundoscopy : Normal RIGHT LEFT Visual acuity Normal Normal Color Vision Normal Normal Field of Vision Normal Normal

14. Oculomotor, Trochlear, Abducens: No Ptosis , Extraocular movements are normal in all directions. Pupils are of normal size and shape in both eyes. Light reflex: present. Accomodation reflex: Present RIGHT LEFT DIRECT PRESENT PRESENT CONSENSUAL PRESENT PRESENT

15. Trigeminal: Sensations over face, scalp normal. Corneal reflex present on both side No weakness of muscles of mastication. Jaw jerk- Absent Facial nerve No deviation of angle of mouth, no drooling of saliva. Taste sensation from anterior 2/3 rd of tongue intact.

16. Vestibulocochlear nerve : Rinne’s test: Positive in both ears Weber’s test: Not lateralized Glossopharyngeal & vagus nerve: Gag reflex diminished. Uvula deviated to right side. Palatal movement diminished on right side .

17. Accessory nerve : No weakness of trapezius or sternocleidomastoid bilaterally. Hypoglossal nerve : Tongue atrophy- present Fasciculation and fibrillation- present No deviation of tongue to any side.

18. MOTOR SYSTEM EXAMINATION 1.BULK B/L atrophy of thenar and hypothenar muscles. There is visible fasciculation over both deltoid, biceps, triceps, wrist flexors, extensors of thigh. 2.TONE Normal in upper limbs and lower limbs. RIGHT LEFT ARM 20 cms 21cms FOREARM 19cms 20cms THIGH 38 cms 36 cms LEG 28cms 29cms

19. 3. Power: JOINT MOVEMENT RIGHT LEFT Shoulder Abduction 3/5 3/5 Adduction 3/5 3/5 Flexion 3/5 3/5 Extension 3/5 3/5 Elbow Flexion 3/5 3/5 Extension 3/5 3/5 Wrist Flexion 3/5 3/5 Extension 3/5 3/5 Hand grip weak weak

20. JOINT MOVEMENT RIGHT LEFT Hip Abduction 3/5 3/5 Adduction 3/5 3/5 Flexion 3/5 3/5 Extension 3/5 3/5 Knee Flexion 3/5 3/5 Extension 3/5 3/5 Ankle Plantar flexion 2/5 2/5 Dorsi flexion Inversion Eversion 2/5 2/5 2/5 2/5 2/5 2/5

21. REFLEXES DEEP TENDON REFLEX Right Left Upper Limb Biceps Brisk Brisk Triceps Brisk Brisk Supinator Brisk Brisk Lower Limb Knee Brisk Brisk Ankle Absent Absent

22. SUPERFICIAL REFLEX : Abdominal reflex – Absent Bilateral Plantar – Non-responsive Hoffmann Sign- present Wartenberg sign- present

23. 5.CO-ORDINATION : Couldn’t be tested 6. GAIT – Waddling Gait. 7. INVOLUNTARY MOVEMENT : fasciculations present 8.MENINGEAL SIGNS: Absent

24. SENSORY EXAMINATION All primary modalities of sensation like pain, touch, vibration, position sense and pressure are intact. All cortical sensations are intact.

25. AUTONOMIC NERVOUS SYSTEM No resting tachycardia. No Urinary retention and constipation, urgency, hesitancy or precipitancy. No Postural hypotension PERIPHERAL NERVE : Not thickened

26. SKULL AND SPINE Skull is normal in size and shape Spine: No swelling, tenderness, deformity

27. EXAMINATION OF CARDIOVASCULAR SYSTEM INSPECTION :- Precordium normal in shape No dilated veins and visible scars seen Apical impulse seen ½ inch medial to Lt mid clavicular line . No other pulsation seen.

28. PALPATION :- Apex beat -felt in left 5 th ICS at the ½ inch Medial to Mid clavicular line, normal in character. No palpable sounds felt in apical area. Pulmonary area : No Palpable P2, No parasternal heave

29. PERCUSSION :- 2 nd left intercostal space - resonant Cardiac dullness start from 3rd ICS & does not extend beyond apex. Right cardiac border corresponds to right sternal border Left cardiac border corresponds to apex beat .

30. AUSCULTATION:- MITRAL AREA : S1 normal. No murmur heard PULMONARY AREA : P2 (N) heard. No murmur.

31. AORTIC AREA : S1 S2 heard. No extra sound, No murmur. TRICUSPID AREA : S1(N) heard. No murmur.

32. EXAMINATION OF RESPIRATORY SYSTEM EXAMINATION OF CHEST: INSPECTION :- Trachea appears to be central in position Apical impulse is seen to be in lt 5 th ICS 1/2inch medial to mid clavicular line. Chest bilaterally symmetrical. NO fullness, hollowing, intercostal retraction Chest movement equal b/l

33. PALPATION:- Trachea is confirmed to central. Apical impulse is confirmed to be in lt 5 th ICS ½ inch medial to Lt MCL Chest expansion is 5 cm. Vocal fremitus is normal b/l There is no Intercostal tenderness.

34. PERCUSSION :- Direct percussion over clavicle is normal Bilatarally Percussion over left and right hemithorax is normally resonant. AUSCULTATION :- Normal vesicular breath sound heard Normal vocal resonance No adventitious sound.

35. EXAMINATION OF GI SYSTEM Mouth and oral cavity normal. INSPECTION :- Shape of abdomen is scaphoid Umbilicus central & inverted No engorged vein, no visible peristalsis PALPATION :- Liver not enlarged, Spleen not palpable

36. PERCUSSION :- Abdomen is tympanitic AUSCULTATION:- Bowel sound is 3-4/min PR Examination: Not done

37. SUMMARY A 60 year old female presented with insidious onset progressive quadriparesis, dysphagia, dysarthria over last 6 month, and dyspnea for last one month without any sensory loss and bowel bladder involvement. O/E there is Loss of muscle mass of both upper and lower limbs. Deep tendon reflexes exaggerated in both upper and lower limbs. B/L Planter non-responsive. Fasciculations and 9,10,12 cranial nerve involvement.

38. Structures involved: 1. Cranial nerve nuclei :- 9,10,12. 2.B/l Cortico spinal tract. 3.Anterior horn cell.

39. Provisional diagnosis MOTOR NEURON DISEASE -AMYOTROPHIC LATERAL SCLEROSIS

40. Differential diagnosis CV JUNCTION ANOMALY. SYRINGOBULBIA. CERVICAL COMPRESSIVE MYELOPATHY .

41. INVESTIGATIONS Hemoglobin: 11.1gm% TLC: 9200/ cmm Neutrophil: 76% Lymphocyte: 20% Eosinophil: 02% Monocyte 02% TPC 2 lakh/ cmm ESR: 20 mm in 1 st hr , Urine (Routine/Microscopy) Albumin: Nil Sugar: Nil RBC: Nil Pus Cell: 0-1/HPF Epithelial Cell: 1-2/HPF

42. INVESTIGATIONS RBS: 88mg/dL Serum Urea: 35 mg/dL Serum Creatinine: 0.9mg/dL Serum Sodium: 137 meq /l Serum Potassium: 4.8 meq /l HBsAg: Negative HCV : Negative HIV: Negative Serum calcium: 2.2mmol/l (Total) 1.23mmol/l ( ionised ) Liver function test: Sr bilirubin TOTAL - 0.3 DIRECT-0.1 AST-47 ALT-46 ALP-208

43. ELECTRODIAGNOSIS EMG- High amplitude, Polyphasic MUAP with incomplete recruitment seen in right FDL, left Deltoid, right biceps brachi , right vastus medialis, and tongue muscles. Spontaneous activity in the form of fasciculation seen in right FDL, left Deltoid, right biceps, Thoracic Paraspinal & right vastus medialis. Suggestive of GENERALISED ANTERIOR HORN CELL DISEASE invloving bulbar, cervical,thoracic and lumbosacral system. NCS- axonal neuropathy b/l median nerve

44. MRI Cervical Spine with Screening Whole Spine. CERVICAL SPONDYLOSIS WITHOUT ANY SIGNIFICANT NEURAL COMPROMISE. NO SPINAL CANAL STENOSIS. MRI BRAIN WITH MRA Moderate cerebellar shrinkage

45. FINAL DIAGNOSIS MOTOR NEURON DISEASE (CLINICALLY DEFINITE AMYOTROPHIC LATERAL SCLEROSIS)

46. THANK YOU