GENERAL MEDICINE E-LOG BOOK. - ROLL NUMBER 106 , A 42 YEAR OLD FEMALE WITH MULTIPLE HEALTH EVENTS. MAY 16TH 2020.

The case given was of  - 42 y/o female diagnosed with GLUCOSE 6 PHOSPHATE DEHYDROGENASE AND ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCIES WITH VARIOUS OTHER PROBLEMS.

 Presented by :- Moulika Kari , roll no:- 106, MBBS IV

Problem statements (1-10) , Possible explanations (i-x) , solutions (I-X) :-

1)  Headache with aura and associated weakness of left side of body.

i) a. Hemiplegic migraine
   b. Cluster headache ( very less likely )
   c. Post-ictal todds palsy

Likely Hemiplegic migraine as it is fulfilling "The International Classification of Headache Disorders, 3rd edition" Reference:- 1.

Differential Diagnosis:-

MELAS - Mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes ,Ref:- 2
CADASIL
Ornithine Transcarbamylase Deficiency. Ref:- 3
Homocystinuria, Ref:- 4

 I) Management plan:- 
Oral Verapamil (120 mg one to three times a day)
Flunarizine (2.5 to 10 mg daily)

 Sympathomimetics such as triptans and ergotamine derivatives are felt to be contraindicated in hemiplegic migraine because of the potential for cerebral vasoconstriction, Ref:- 5

 2) Jaundice in infancy, edema , shortness of breath, exercise intolerance, reaction to sulfa drugs and anti-malarials, fatigue.

 ii) All of these symptoms can be attributed most probably to glucose-6-phosphate dehydrogenase (G6PD) deficiency.

 Probably G6PD Mediterranean type deficiency. Ref:- 6

 G6PD deficiency causes hemolytic anemia which can lead to jaundice, fatigue and exercise intolerance and also heart failure which can manifest as edema. 

 II) Management plan:-

 Avoid fava beans, sulfa drugs and anti-malarials.

 Differential diagnosis:-

 AMPD1 Deficiency:- as it explains Weakness, Fatigue, Muscle Pain,Intolerance to Exercise, Decreased And dark Urine After exercise/extreme stress, Shortness of breath, Sudden waking up at night with palpitations. Ref:- 7

 Treatment:- 
1. Ribose - orally, 0.2g/kg/day ; Taken hourly provides direct but limited source of energy to cells
2. Creatine Monohydrate
3. Cemitidine - Decreases swelling and Improves Sleep
4. L-serine - Improves Sleep Initiation and Maintenance

Other Problem statements and related causes:-

  • MTHFR Mutation - Hyperhomocysteinemia which leads to increased risk of THROMBO-EMBOLIC EVENTS, Cognitive impairment and dementia, Increased Fractures in elderly . Ref:- 8
  • WNK1 Mutation - Hereditary sensory neuropathy  - reduced ability to feel pain, Dysregulation of Cation Chloride Cotransporters in Kidney . Ref:- 9
  • VWF mutation - Heavy menstrual bleeding, Bruising
  • PCOS - Dysmenorrhea, Ectopic Pregnancy

REFERENCE:-

1) Ettlin, Dominik A (2013). The International Classification of Headache Disorders, 3rd edition (beta version). Cephalalgia, 33(9):629-808.

2) Koo B, Becker LE, Chuang S, et al. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol 1993; 34:25.

3) de Grauw TJ, Smit LM, Brockstedt M, et al. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency. Neuropediatrics 1990; 21:133.

4) Silva GS, Almeida CM, Félix EP, et al. [Cerebral venous thrombosis and homocystinuria: case report]. Arq Neuropsiquiatr 2001; 59:815.

5) Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol 2011; 10:457.

6) Oppenheim A, Jury CL, Rund D, et al. G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. Hum Genet 1993; 91:293.

7) https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency

8) Homocysteine and MTHFR Mutations, https://www.ahajournals.org/doi/full/10.1161/CIRCULATIONAHA.114.013311

9) Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II, https://www.jci.org/articles/view/34088.







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