Case Presentation By: Leonard Pollack, MD

HPI 11/28/11  11 y/o white male presented to primary care office for well- child check up  Father mentioned child has had URI sx for several days, decreased appetite, and increasing constipation  Father is questioning whether his runny nose and refusal to eat could be related to food allergies  Child has been somewhat less active than normal and generally seems uncomfortable  Hx is limited due to child’s inability to communicate

Medical History Trisomy 21 Hx of esophagitis  Confirmed by upper endoscopy in Oct 2010 Hx of hypothyroidism  Dx in 2001  Has been treated with synthroid  Most recent thyroid function tests on 37.5mcg of synthroid/day in May 2011 were normal Hx of mild Fe deficiency  Tx with multivitamin with Fe

Other History Allergies  Cephalosporins Non-specific rash Surgical History  VSD repair at CHOM at age 4 months

Current Medications lansoprazole Tablet,Rapid Dissolve, 30 mg daily levothyroxine Tablet 25 mcg: 1 1/2 tablet by mouth once a day hydroxyzine 10mg PO q8 hours prn

Immunizations Up to date  Had Tdap and Menactra boosters 12/19/11  Has completed HepA series, has completed 2 doses each of MMR and Varicella, 4 doses of pneumococcal vaccine, 4 doses of injectable Polio  Had Influenza vaccine in 2010, has not yet received Influenza vaccine

Family History Mother has Multiple Sclerosis Mother has positive psychiatric history Father is healthy No siblings

Social History Parents are divorced Child lives with Mother Father is actively involved with his care Significant stress in home; mother has filed 3200’s on Dad for abuse/neglect, but requires his assistance for care for the child Child is in Special Ed through Macomb Intermediate School District

Physical Exam Was limited due to patient’s lack of cooperation Patient had obvious stigmata of Down’s Syndrome Weight was 28.8kg (previous weight in June 2011 was 26.1kg) Height/Blood pressure could not be obtained Physical Exam was otherwise unremarkable except for nasal congestion

Impression 11 y/o male with Down’s Syndrome Viral URI Recent increase in constipation, decreased activity level, and parental impression that the child was uncomfortable without obvious abnormalities to explain this on physical exam

Differential Diagnosis Hypothyroidism Generalized viral illness Recurrence of esophagitis Anemia Food allergies

Plan Influenza vaccine was administered Labs sent for:  Free T4, TSH  CBC with diff  Sed Rate  Food allergy panel  Fe and TIBC Discussed with Father that if labs did not explain his changes in oral intake and behavior, repeat endoscopy may be necessary

Results CBC with diff, Sed Rate, Fe and TIBC, and Food allergy panel were all normal TSH elevated: 8.72 ( ) Free T4: 1.46 ( )

Clinical course I called Mom on 12/1/11 to discuss results, there was no answer, and she returned my call the following day Due to elevated TSH, I increased Synthroid to 50mcg/day, but explained that I was not convinced that this was the cause of his decreased oral intake or behavioral changes Plan to re-assess in 3-4 weeks, sooner if getting worse, still suspected endoscopy would be necessary

Clinical Course Continues At this point, Mom told me that for the past 2 days, he had been vomiting, activity level had been much worse, and she thought he had lost weight Mother was instructed patient needed to be reexamined, and she arranged for Father to bring him into the office that afternoon

Return visit on 12/2/11 Child clinically appeared dehydrated Weight had decreased to 26.4kg (approximately 8% weight loss over 4 days) Father expressed that although the child had been vomiting, he had been drinking a lot (apple juice was all he would take) and urinating a lot Child had no tachypnea, no kussmaul respirations, but did have very dry mucosa and sunken eyes

Labs on 12/2/11- Office Na: 132 K: 5.8 with slight hemolysis Cl: 93 CO2: 19 BUN: 66 Cr: 2.2 Ca: 8.8 AG: 20 Glucose: 1383

Slides on admission – 12/2/2011 Glucose 1315 BUN 59 Creatinine 1.8 Sodium 133 Potassium 5.4 Chloride 91 CO2 23 Calcium 9.5

Final Diagnoses Down’s Syndrome Hypothyroidism New-onset Diabetes without Diabetic Ketoacidosis

Plan Patient was admitted to the hospital for initiation of Insulin Therapy and parental teaching Patient responded appropriately to Insulin and laboratory confirmed diagnosis of Type I Diabetes

Additional labs Islet Cell Antibody IgG – 80 (nl <5) IgG subclasses – nl Celiac Disease Panel – negative TSH – Nl ( ) T4 9.3 mcg/dl – Nl ( ) Thyroglobin antibody < 20 (nl <20) Serum insulin <2.0 (nl <2.0) Hemoglobin A1C 10.2% Beta Hydroxy butyrate 2.7 (nl <0.3)