Case Presentation THE MEDICAL CHALLENGE OF RECURRENT PAROXYSMS

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Case Presentation “THE MEDICAL CHALLENGE OF RECURRENT PAROXYSMS IN A YOUNG GIRL” By: Dr.

Case Presentation “THE MEDICAL CHALLENGE OF RECURRENT PAROXYSMS IN A YOUNG GIRL” By: Dr. Sankar Narayan Mishra 2 nd Year pgt BMCH

Patient Particulars: n. Name: Pallabi Majhi n. Age: 11 years n. Sex: Female n.

Patient Particulars: n. Name: Pallabi Majhi n. Age: 11 years n. Sex: Female n. Address: Kalna, Purba Bardhaman, West Bengal. n. Place of Examination: Burdwan Medical College and Hospital. n. Admission Date: 03/05/2020

Chief Complaints: n. Recurrent episodes of involuntary painful spasms of hand leg muscles for

Chief Complaints: n. Recurrent episodes of involuntary painful spasms of hand leg muscles for last one year. Almost every episode needed hospitalization. n The girl was treated at the local hospital n. Referred to us for proper evaluation.

HISTORY: • HOPI: The patient was apparently well one year back , but for

HISTORY: • HOPI: The patient was apparently well one year back , but for last one year she had repeated episodes of painful muscular spasm of hand leg for that she had to admit in a local hospital. • There was no history of chronic diarrhoea, excessive weight loss, oligura, seizures or bone pain/deformity. • PAST HISTORY: There was no history of any surgery or irradiation, Or previously diagnosed Thalassemia/Hemochromatosis/Wilsons disease.

n. Birth History: FT, NVD, Antenatal/Postnatal history was uneventful. Birth weight was-2. 7 kg.

n. Birth History: FT, NVD, Antenatal/Postnatal history was uneventful. Birth weight was-2. 7 kg. n. Development History: Development is normal, Studying at 6 th class with good academic performance as per mother's information.

n. Dietary History: Adequate daily calorie and protein intake. n. Family History: No h/o

n. Dietary History: Adequate daily calorie and protein intake. n. Family History: No h/o consanguinity, No h/o similar illness in the family.

n. Anthropometry: • Height-149. 5 cm, Is at the 75 th Percentile. • Wt-34.

n. Anthropometry: • Height-149. 5 cm, Is at the 75 th Percentile. • Wt-34. 2 kg, Between 25 th-50 th Percentile. • MPH-150. 7 cm • SMR Tanner Stage-3

Clinical Examination: n. General Examination: • • • Patient is C/A/C Pallor-present O 0

Clinical Examination: n. General Examination: • • • Patient is C/A/C Pallor-present O 0 C 0 J 0 CY 0 Thyroid and Lymph nodes are not enlarged No facial Dysmorphism, Mucocutaneous Candidiasis, alopecia, Rachitic features, cataract, deafness or generalized pigmentation, Brachymetacarpia.

n. Vitals: • HR-80/min • RR-30/min • BP-110/70 mm of Hg. • SPECIAL FINDINGS:

n. Vitals: • HR-80/min • RR-30/min • BP-110/70 mm of Hg. • SPECIAL FINDINGS: • Numbness of hand on elevation of BP cuff above SBP. • Trousseau sign-present • Chovstek sign-Absent • OTHER SYSTEMIC EXAMINATION: NAD

SUMMARY • A 11 year young girl with recurrent episodes of involuntary muscular contractions/spasms

SUMMARY • A 11 year young girl with recurrent episodes of involuntary muscular contractions/spasms of hand leg (Carpopedal Spasms) for last one year with clinically elicited positive Trousseau sign, along with unremarkable systemic findings. (? significance)

Differential Diagnosis: 1. Chronic Hypocalcaemia 2. Hypoprathyroidism 3. Impaired PTH effect (Pseudohypoparathyroidism)

Differential Diagnosis: 1. Chronic Hypocalcaemia 2. Hypoprathyroidism 3. Impaired PTH effect (Pseudohypoparathyroidism)

PRIMARY INVESTIGATIOS: INVESTIGATIONS FINDINGS INTERPRETATION HB% 10. 1 gm/dl Normal TLC 9400/cmm Normal PLATELET

PRIMARY INVESTIGATIOS: INVESTIGATIONS FINDINGS INTERPRETATION HB% 10. 1 gm/dl Normal TLC 9400/cmm Normal PLATELET 2, 30, 000/cmm Normal DLC N 67 L 27 E 2 M 4 B 0 Normal UREA 16 mg/dl Normal CREATININE 0. 9 mg/dl Normal T. Bil, SGPT, SGOT, --Sr. Albumin, Globulin. Normal

Second Line Laboratory Findings: Investigations Values Interpretation Calcium 6. 8 mg/dl Hypocalcaemia Phosphate 9.

Second Line Laboratory Findings: Investigations Values Interpretation Calcium 6. 8 mg/dl Hypocalcaemia Phosphate 9. 9 mg/dl Hyperphosphatemia ALP 304 U/L Normal Creatinine 0. 6 Normal 25 -OH-vit. D 25. 3 ng/dl Normal PTH 8. 2 pg/ml Low Urine Ca/cr ratio 0. 01 Hypocalciuria Na+/k+ 137. 9/3. 58 Normal FT 4/TSH 17. 53/0. 95 Normal RBS 101 mg/dl Normal Serum Magnesium 2. 1 mg/dl Normal

 • USG W/A—NAD • USG NECK—NAD • CXR—NAD • ECHO—NAD • ANTI TTG-NEGATIVE

• USG W/A—NAD • USG NECK—NAD • CXR—NAD • ECHO—NAD • ANTI TTG-NEGATIVE • AIRE GENE ASSAY –CANT BE DONE HERE

n. So, The striking laboratory findings are: 1. Hypocalcaemia 2. Hyperphosphatemia 3. Low sr.

n. So, The striking laboratory findings are: 1. Hypocalcaemia 2. Hyperphosphatemia 3. Low sr. PTH 4. Decreased urinary Ca 2+/Cr ratio

X RAY OF WRIST JOINT(LT) SHOWS: INCREASED INTENSITY AT METAPHYSIS AREA:

X RAY OF WRIST JOINT(LT) SHOWS: INCREASED INTENSITY AT METAPHYSIS AREA:

12 LEAD ECG SHOWING QT PROLONGATION:

12 LEAD ECG SHOWING QT PROLONGATION:

CT SCAN BRAIN SHOWING B/L BASAL GANGLIA CALCIFICATION:

CT SCAN BRAIN SHOWING B/L BASAL GANGLIA CALCIFICATION:

 • So, The case was initially diagnosed to be a case of Hypoparathyroidism.

• So, The case was initially diagnosed to be a case of Hypoparathyroidism.

 • TREATMENT HISTORY DURING THE PERIOD OF HOSPITAL STAY: • Treated with iv

• TREATMENT HISTORY DURING THE PERIOD OF HOSPITAL STAY: • Treated with iv calcium gluconate 2 ml/kg slow iv stat(with HR moitoring), followed by 4 ml/kg/day every 6 hourly. After initial stabilization patient is shifted to oral calcium and calcitriol therapy.

FOLLOW UP: • 1. Initially treated with Tab calcium(1. 3 gm/day)@40 mg/kg/day with strict

FOLLOW UP: • 1. Initially treated with Tab calcium(1. 3 gm/day)@40 mg/kg/day with strict monitoring of sr. calcium weekly. AND • 2. Tab calcitriol 25 ng/kg/day But, there were three attacks during follow up(after one month) even with this treatment, Then, Inj Teriparatide 20 mcg/dose, twice daily by subcutaneous pen injector started and the patient improved. Both serum calcium and phosphorus level normalised after two weeks, along with no further episodes of hypocalcaemic attacks. “THOUGH THE MOLECULAR DIAGNOSIS OF ETIOLOGY OF HYPOPARATHYROIDISM COULD NOT ASSESSED. ”

 • So, The final diagnosis is: A case of refractory hypocalcemia due to

• So, The final diagnosis is: A case of refractory hypocalcemia due to hypoparathyroidism.

DISCUSSION: CAUSES OF HYPOPARATHYROIDISM: A. Congenital: 1. Transient neonatal 2. Congenital hypoparathyroidism a. Familial

DISCUSSION: CAUSES OF HYPOPARATHYROIDISM: A. Congenital: 1. Transient neonatal 2. Congenital hypoparathyroidism a. Familial isolated hypoparathyroidim (AR-GCMB , PTH ; ADCa. SR ; X-LINKED-SOX 3). b. Digeorge Syndrome(TBX 1) c. Sanjad-Sakati syndrome(Short stature , retardation , dysmorpism , HRD) d. Kenny-Caffey syndrome 1(Short stature, medullary stenosis) e. Barakat syndrome (SNHL , Renal Dysplasia , HDR) f. Mitochondrial Disorders: (Kearns-Sayre , Pearson , MELAS)

Contd… • 3. INSENSIVITY TO PTH: • a. Blomstrand chondrodysplasia (p. THR 1) •

Contd… • 3. INSENSIVITY TO PTH: • a. Blomstrand chondrodysplasia (p. THR 1) • b. Pseudohypoparathyroidism type IA, IB, IC, II, • c. Acrodysostosis with hormone resistance(PRKAR 1 A) • d. Hypomagnesemia • 4. Ca. SR-activating mutation(AD , Sporadic)

Contd… • B. ACQUIRED CAUSES: 1. Autoimmune polyglandular syndrome type 1(AIRE gene mutation) 2.

Contd… • B. ACQUIRED CAUSES: 1. Autoimmune polyglandular syndrome type 1(AIRE gene mutation) 2. Activating antibodies to the Ca. SR 3. Postsurgical, radiation destruction 4. Infiltrative: -Excessive iron(Hemochromatosis , Thalassemia) or copper(Wilson disease) deposition , Granulomatous inflammation , Neoplastic invasion , Amyloidosis , sarcoidosis. 5. Maternal hyperparathyroidism 6. Hypo/hypermagnesemia.

DIAGNOSTIC ALGORITHM:

DIAGNOSTIC ALGORITHM:

CONVENTIONAL THERAPY: 1. Calcium salt supplementation: 30 -50 mg/kg/day(Multiple devided doses). 2. Active vit-D

CONVENTIONAL THERAPY: 1. Calcium salt supplementation: 30 -50 mg/kg/day(Multiple devided doses). 2. Active vit-D 3: Calcitriol, 15 -30 ng/kg/day(0. 75 -2 mcg) 3. When active vit D is not available: Cholecalciferol 400800 IU/day can be given. Initially, monitoring of Serum calcium and phosphorus to be done weekly, then every 3 -6 months. Also 24 hour urinary calcium to be done yearly. 3. Refractory Cases: Recombinant parathyroid supplementation. 4. OTHER MODALITIES: Low phosphate diet, phosphate Binders, Correction of sr. Magnesium, Thiazide diuretics.

RECOMBINANT PTH: TERIPARATIDE(1 -34) Synthetic PTH Twice daily dosing Pump delivery ADVANTAGES OF r.

RECOMBINANT PTH: TERIPARATIDE(1 -34) Synthetic PTH Twice daily dosing Pump delivery ADVANTAGES OF r. PTH: Calcium supplement reduced • Activated vitamin D<50% • Less 24 hr urinary calcium. • • • NATPARA(1 -84) • Full length synthetic PTH • FDA approved for chronic hypoparathyroidism • Once daily s. c injection • Dose: 50 -100 mcg

WHEN WE CAN RECOMMEND PTH ? 1. Inadequate Sr. calcium despite ca>2. 5 g

WHEN WE CAN RECOMMEND PTH ? 1. Inadequate Sr. calcium despite ca>2. 5 g and calcitriol>1. 5 mcg. 2. Renal complication of hypercalciuria with e. GFR<60. 3. Hyperphosphatemia with calcium-phosphate product>55 mg 2/dl 2. 4. GI disorder with malabsorption

TAKE HOME POINTS: 1. Consider HYPOPARATHYROIDISM if hypocalcemia and hyperphosphatemia with normal or low

TAKE HOME POINTS: 1. Consider HYPOPARATHYROIDISM if hypocalcemia and hyperphosphatemia with normal or low PTH. 2. Think Hypomagnesemia in refractory cases. 3. Maintain calcium in low normal range. 4. Recombinant PTH only in refractory cases.

Thank You

Thank You