An interesting case of DIDMOAD syndrome
A 15 year old female patient, K.Lavanya, k/c/o diabetes x4 years brought by parents to the Endocrinology,OPD,KGH for c/o polyuria,polydypsia for 10 days
HPI: She was diagnosed with diabetes at the age of 11 for complaints of osmotic symptoms and was on multiple subcutaneous insulin injections. She had h/o progressive decrease in vision since 4 years. H/o polyuria,polydypsia present for 10 days despite good glycemic control. Voiding every 1-2 hours and drinking water 3-4 L per day preferably cold water.
Past history: Nil significant.
Family history: Born to 3* consanguinous parentage, her elder brother had diabetes onset at 6 years, with progressive vision loss by 11 years. Both the parents and brother have short stature.
Normal birth history ,had delay in motor and language milestones
Weight: 24 kg ,weight age 7 ½years
Height: 119cm, Height age: 6 ½ years, Height SDS: -7 SDS
Negative for Pallor, Icterus, Cyanosis, Clubbing and lymphadenopathy
She had low set ears, open mouth, high arched palate, wide carrying angle, genuvalgum, flat foot and scoliosis
CVS, RESPIRATORY, GIT are normal
CNS: speech- language delayed
Cranial nerve II : Visual acuity- only perceive hand movements
Fundus: diffuse pallor of disc b/l
VIII: Bone conduction> air conduction
Motor, sensory: normal
ESR: 25mm/1st hr
Platelets: 2.4 lakhs/mm3
FPG: 95 mg/dl,PPPG: 150mg/dl,A1c- 6.8%
Sr Creatinine: 1.1 mg/dl
24 hr urine volume :3500 ml s/o polyuria
Plasma osmolality: 291 mosm/L
Urine osmolality: 109 mosm/L
Desmopressin challenge test: 358mosm/L >50% increase urine osmolality. S/o central DI.
MRI: Vermis hypoplasia,Absent posterior pituitary bright spot,normal Anterior pituitary
Audiometry: B/L high frequency sensory neural hearing loss
T1Diabetes mellitus x 4years
Central diabetes insipidus
Severe short stature
By what name is DIDMOAD also known as?
What type of inheritance is seen in DIDMOAD?
Which gene is Mutated in DIDMOAD syndrome?
What is the natural history of DIDMOAD syndrome?
How to manage DIDMOAD syndrome patients ?
With Guidance By: Dr. Mounika Anitha