21 YR OLD FEMALE ,PRESENTED WITH

PARESTHESIA & TINGLING OF FINGERS & TOES –

1 DAY

CARPAL SPASM ON INFLATING THE BP CUFF—

TROUSSEAU’S SIGN

H/O SEIZURES IN THE PAST

NO H/O NECK SURGERY

INVESTIGATIONS

Se Ca –7.2 mg/dl

Se P _ 4.8 mg/dl

Se Mg_2.0 mg/dl

Se Alb-3.6 gm

Se PTH- 10.01 pg/ml(15—65)

Causes of basal ganglia calcification:

1.physiologic with aging

2.endocrine-hypoparathyroidism

-pseudo/pseudo pseudo hypo para.

-hypothyroidism

3.metabolic-Leigh’s disease(sub acute nec. Enceph)

-mitochondrial cytopathy-KEARN SAYRE

-MELAS

-MERRF

- Fahr’s disease(familial cerebro vas. Calcinosis)

4.Congenital :

Neurofibromatosis ,

Tuberous sclerosis,

Down’s,

cockayne synd,

lipoid proteinosis

familial idiopathic symmetric- -

--basalgangliacalcification

5.Infection/inflammation:

Toxoplasmosis,

CMV,

congenital rubella,

measles ,

varicella

pertussis ,

coxsackieB,

cysticercosis

SLE,AIDS

6.BIRTH ASPHYXIA

7.TOXINS;

CO

LEAD

• PTH ABSENT

• 1.HEREDITARY

• 2.ACQUIRED

• 3.HYPO MG.

• PTH INEFFECTIVE

• 1.VIT.D.DEFI

• 2.CRF

• 3.PSEUDO.HYPO.PTH

• PTH INSUFFICIENCY

• 1.TUMOR LYSIS

• 2.RHABDOMYOLYSIS

• 3.ARF

• 4.SEVERE HYPER PHO.

AR/X LNK.

DIGEORGE

MITO.

MYOPATHY

PGS1

PTH

GENE MUTN

AD HYPOPARATHYROIDISM

CASR MUTATION

BARTTER TYPE 5

PTH receptors present in bone & kidney;

Features of hypo PTH ,with elevated levels

of PTH;

BONE RECEPTOR DEF. KIDNEY RECEPTOR

DEF.

ALBRIGHT OSTEO HYPOCALCEMIA

DYSTROPHY HYPER PO4

BONE RECEPTOR DEFECTIVE

KIDNEY RECEPTOR NORMAL

DUE TO PATERNAL IMPRINTING

THANKu