10 years Girl with DM & Dental abnormalities.pptx

Rabson–Mendenhall syndrome, A genetic cause of insulin resistance.

1. 10 years Girl with DM & Dental abnormalities Dr. Prodipta Chowdhury Phase-B Resident Dept. Of Endocrinology

2. Particulars of the Patient Miss X 10 yr Student Mymensingh D/O/A: 14 th July 24

3. Presenting Complaints Polyuria, polydipsia, polyphagia for 03 years. Crowding of teeth for 01 year.

4. History of Present Illness

5. Polyuria, polydipsia, polyphagia Weight loss Didn’t sought treatment Came to dental OPD for tooth extraction Routine check-up: Dx : DM Referred to Endocrine Dept.

6. No history suggestive of Hypoglycemia or hyperglycemic emergency Micro or macrovascular complication Altered bowel habit Visual disturbance Auto-immune disease

7. Perinatal History NVD at term Low birth weight No H/O perinatal asphyxia or convulsion

8. Developmental History Milestone of development: normal except speech Can’t hear either Student of class 04

9. Family History 2 nd issue of non- consanguinous parents 01 brother, 01 sister F/H/O DM

10. Pedigree

11. Socioeconomic History Lower socioeconomic condition Kacha house Drinks tube well water

12. Immunization History Immunized as per EPI schedule Took 2 doses of COVID-19 vaccine

13. Inv. prior admission (1 st June 2024) Name Interpretation Hemoglobin 14.1 g/ dL ESR 10 mm MCV 79 fl MCH 28 pg TC of WBC 8,200/ cmm Platelet Count 3,45,000/ cmm FPG 12.5 mmol/L 2hrsAFB 18.2 mmol/L

14. Inv. cont … Name Interpretation Total Cholesterol 165 mg/dL Triglyceride 120 mg/dL HDL-Cholesterol 40 mg/dL LDL-Cholesterol 101 mg/dL S. TSH 0.5 uIu /mL FT4 12.9 pmol /L S. Calcium 9.6 mg/dL S. Cortisol 10.6 ug/dL

15. General Examination Appearance: Syndromic having coarse facies , prognathism , gingival hyperplasia, larger lower lip, two extra teeth in lower jaw Anaemia : (-) Jaundice: (-) Oedema : (-) Cyanosis: (-) Clubbing: (-) Leukonychia: (-) Koilonychia: (-)

16. Skin: Hyperpigmentation, hyper trichosis , severe acanthosis nigricans, dystrophic nails

17. Thyroid gland: Not enlarged Lymph node: Not palpable Bony tenderness: (-) R/R: 14 breaths/min Temperature: 98° F Dehydration: (-) Pulse- 76 b/min, regular, without R-R Or R-F delay BP- 110/80 mmHg without postural drop

18. Anthropometry Height: 125 cm Arm span: 123 cm Upper segment: 62 cm Lower segment: 63 cm Weight: 21 kg BMI: 11.52 kg/m 2 Waist circumference: 59 cm Hip Circumference: 58 cm

19. Tanner staging B-1 P-1

20. Systemic Examination Nervous system examination: Higher psychic function: Speech: Expressive aphasia Cranial nerve examination: Optic nerve examination: Normal Vestibulocochlear nerve examination: Couldn’t be evaluated Others: Intact

21. Motor system examination: Muscle bulk & tone: Normal Muscle power & jerk: Normal Planter: Flexor Sensory system examination: Couldn’t be evaluated due to hearing impairment

22. Per-abdominal examination: Inspection: Protruded Palpation: No organomegaly Percussion: Tympanitic Auscultation: Bowel sound: Present

23. Cardiovascular system examination: Pulse: 76 b/min, regular, without R-R Or R-F delay BP: 110/80 mmHg (on both hand) JVP: Not visible Apex beat: Left 5th ICS, just medial to midclavicular line Thrill: Absent Heart sound: S1+S2+0 Added sound: Absent

24. Salient Features Miss. X, 10 years old, student of class 04 hailing from Mymensingh referred from dental OPD with DM. According to the statement of patient’s mother, she was suffering from polyuria, polydipsia, polyphagia for last 03 years with history of weight loss, but they didn’t sought any treatment. During preparation for dental extraction, her FBS was found: 12.5 mmol/L, 2HABF: 18.2 mmol/L, referred to endocrine department & got herself admitted. There was no history of hypoglycemia or hyperglycemic emergency, macro or microvascular complications. She couldn’t talk or hear either but her vision was intact.

25. She was euthyroid , eucortisolemic & there was no history suggestive of any autoimmune disease. She had positive family history of DM, but her phenotypic features differ from others . On examination, patient was syndromic having coarse facies, prognathism, gingival hyperplasia, larger lower lip, two extra teeth in lower jaw , non- anaemic , BMI: 11.52 kg/m 2 , having hyperpigmented skin, hypertrichosis, severe acanthosis nigricans & dystrophic nails. Her height & weight both were below 5 th percentile and weight is more reduced than height. Vitals were normal, there was no thyromegaly. Tanner staging : B1, P1

26. On systemic examination, on nervous system examination, patient had expressive aphasia & hearing impairment . Fundoscopy revealed: normal study, motor system: intact, sensory system: couldn’t be evaluated. On P/A/E, patient had protruded abdomen, but no organomegaly. Other systemic examinations revealed normal findings.

27. Provisional Diagnosis Insulin resistance syndrome Rabson –Mendenhall syndrome Type A insulin resistance

28. Differential Diagnosis Wolfram syndrome Maternally Inherited Diabetes & Deafness Young onset Type 02 DM

29. Investigations

30. CBC: Hemoglobin 13.3 g/ dL ESR 10 mm/1 st hour MCV 83.5 fl MCH 27.1 pg MCHC 32.5 g/L RDW-CV 12.2% Total count of WBC 7,000/ cmm Neutrophils 68% Lymphocytes 23% Monocytes 8% Eosinophils 1% Basophils 0% Platelet count 3,70,000/ cmm

31. PBF: RBC: Anisocytosis with anisochromia . WBC: Mature with normal count & distribution. Platelet: Normal. Comments: Non-specific findings.

32. Urine R/M/E: Specific gravity 1.010 pH 6.0 Protein Nil Sugar ++++ Ketones body Nil Pus cells 0-2/ hpf Epithelial cell 2-4/ hpf RBC Nil

33. Name Result RBS 30.79 mmol/L HbA1c 15.2% S. Creatinine 0.40 mg/ dL hs CRP 2.18 mg/L S. Electrolytes Na 133 mmol/L K 3.56 mmol/L Cl 95.8 mmol/L T-CO2 31.6 mmol/L C-Peptide (Non-Fasting) 2.37 ng/mL (Child: 0.7-3.6 ng/mL)

34. USG of Whole Abdomen: Bilateral early renal parenchymal disease. (Cortical echogenicity is increased, CMD is maintained, both kidneys are normal in size, shape & position) Left renal cortical cyst. Suggestive of cystitis.

35. Bony age: Corresponds to 07-08 years of age

36. Color Doppler Echocardiography: Normal Cardiac Anatomy Normal PA pressure No Chamber dilatation Good bi-ventricular function

37. Working Diagnosis Rabson –Mendenhall syndrome

38. Ongoing Treatment Diet: Diabetic Inf. Normal Saline 1000ml- Stat given Inj. Lantus (U-100)- 0+0+24 IU s/c Inj. Actrapid HM (U-100)- 24+24+20 IU s/c Tab. Metformin XR 500mg – 0+1+0 Tab. Pioglitazone 15mg – 0+0+1

39. Referral reply from ENT

40. Pending investigations PTA Color fundal photograph INSR gene mutation at the gene map locus 19p13.3-p13.2

41. Problem List Further investigations for management purpose Optimum treatment Prognosis Screening of siblings