1. JULY EDITION PEDIATRIC PUZZLER

2. Chief Complaint “Something is wrong with him” “I’m frustrated because he won’t gain weight!”

3. HPI 13 mo male brought to the PCP for poor weight gain. Eats varied table foods and breastfeeds at night. He still drinks Elecare as well.

4. Birth and Developmental History 38 WGA Repeat C/S No perinatal complications, went home with mom BW 3.1kg Gross motor: walked at 11 months Verbal: 3 words Well coordinated No obvious vision or hearing problems

5. Past Medical History Constipation  Treated with Miralax (polyethylene glycol)  Hirschsprung was considered but not worked up b/c he improved after Miralax NKDA Food Allergies: Diarrhea after watermelon Immunzations: UTD Family History: Uncle with wheat allergy Social: Lives with parents, and healthy 6 yo sister; no daycare, no recent travel

6. Birth 3.1kg (25%) 48.5 cm (25%) 7mo 6.9 kg (10%) 67 cm (25%) 13mo 7.1 kg (<<5%) 74 cm (25%) Weight/age 4mo!!!

7. HC: 13 mo 45.5cm (25%)

8. Physical Exam T 98.6 P 120 R 30 BP 94/54 Gen: Thin but alert and well. HEENT: AF closed, OP clear, neck supple, no LAD or thyromegaly CV: RRR no murmurs Lungs: CTAB Abd: Soft, NT/ND, no HSM, no masses, GU: + Circ, testes descended, rectal exam with normal tone Skin: subcutaneous tissue wasting, no rash Neuro: PERRL, EOMi, no gross cranial nerve defects, normal tone, DTRs 2+ throughout, racing around room and babbling

9. This is a picture of our patient. What do you notice?

10. What do you think? DISCUSS AS A GROUP YOUR TOP 3 DIFFERENTIAL DIAGNOSES WHAT 3 TESTS DO YOU WANT TO ORDER?

11. Causes of Failure to Thrive Can be divided into 3 broad categories 1. Caregivers failure to offer sufficient calories 2. Child’s failure to take in sufficient calories 3. Child’s failure to retain sufficient calories

12. More History and Observations The child was hospitalized for workup of FTT Mother and son are observed to be well bonded Calorie count: 70-80 kcal/kg/d IS THIS ADEQUATE INTAKE? Nurses note that mom is an excellent caregiver and offers patient a variety of appropriate foods However, the child self-limits his intake to 75 kcal/kg/d

13. Labs/ Testing CBC CMP ESR Celiac Panel Stool studies  Heme  Fat  Reducing Substances  O/P Calorie Count EGD– mild esophagitis and gastritis

14. WHAT DO YOU THINK? Is reflux our answer? The patient was started on a PPI. The option of starting a prokinetic agent was discussed with the family who ultimately refused because of possible side effects. COULD REFLUX EXPLAIN HIS REFUSAL TO EAT?

15. SOMETHING DID NOT SIT RIGHT WITH THE PHYSICIAN More Testing Done

16. More Labs Done UA- normal Sweat test- negative

17. Further Workup? Is it worth the money? While waiting for the PPI to work and weight gain to be documented, would you… Do a cardiac workup? Do an immunology workup? What about endocrine/metabolic disorder?

18. More and more labs Thyroxine Cortisol Lactate Pyruvate (Growth hormone) Normal!

19. Follow up The patient still is eating poorly even after PPI for a few days Not gaining weight well Parents are very frustrated and want to go home  boy is discharged from hospital Does the fact that a happy, normal child refuses to eat concern you?

20. What do you think? DISCUSS AS A GROUP YOUR TOP 3 DIFFERENTIAL DIAGNOSES ANY OTHER TESTS YOU WANT TO ORDER?

21. Oh no! A kink in the story The parents start to notice that the boy is unsteady and has fallen several times (9 days after hospital d/c) On PE: Ataxia and anisocoria are noted Plain CT of brain done-  3.5 x 3 x 3 cm hypodense suprasellar tumor is noted MRI  Enhancing hypodense mass that tracks posteriorly along optic tracts c/w astrocytoma

22. MRI showing solid, enhancing, suprasellar mass lesion in area of hypothalamus and third ventricle Didn’t expect to see that, did you?

23. DIENCEPHALIC SYNDROME SECONDARY TO CHAISMATIC TUMOR! Final Diagnosis

24. Should we have thought of this? Yes!  Reflux usually resolves/ improves as the child ages. Symptomatic treatment should have helped his refusal to eat.  Cachexia is not a normal finding is an otherwise happy and active child. It should be considered a localizing sign.  Child was very active and had to be distracted to eat- is this normal behavior?

25. Causes of Failure to Thrive Caregivers failure to offer sufficient calories  Stress  Anxiety  Food shortage/ low income  Parental substance abuse Child’s failure to take in sufficient calories  Reflux  Oromotor dysfunction

26. Causes of Failure to Thrive Child’s failure to retain sufficient calories  Malabsorption  Celiac  CF  Milk protein allergy  Hypermetabolic State  Hyperthyroid  Renal disease  Chronic infection (HIV, immune deficiency)  Diencephalic syndrome  Genetic anomalies (IEM)

27. The Diencephalon is a forebrain structure that includes the thalamus, hypothalamus, and pineal gland

28. Diencephalic Syndrome Diencephalic syndrome is a rare but potentially fatal cause of failure to thrive in infants and young children It is a paraneoplastic syndrome resulting from a mass– usually in the optic chiasm or hypothalamic region

29. Diencephalic Syndrome Emaciation occurs despite adequate energy intake Linear growth is spared or even accelerated Head circumference is usually normal  1/3 can have obstructive hydrocephalus  Pseudohydrocephalic appearance Abnormal neuro findings may be absent or slow to appear

30. Epidemiology Mean age at onset of symptoms 6-12 mo Very rare but patients with diencephalic syndrome are often misdiagnosed  Reflux  Celiac  Psychosocial

31. Symptoms FeatureFrequency Emaciation100% Alert appearance87% Hyperkinesis72% Vomiting68% Euphoria59% Pallor55% Nystagmus55% Hydrocephalus33% Irritabilty32% Tremor23% Sweating15% Papilledema<5%

32. The Mass The differential of the mass may include:  Astrocytoma  Germinoma  Craniopharyngioma  Histiocytosis  Glioma  ? Secondary to neurofibromatosis

33. Pathogenesis Exact mechanism unknown Believed to be due to hypothalamic factors  Growth hormone  Location of tumor  Satiety center  Euphoria center

34. WHAT ARE THE TAKE HOME MESSAGES IN THIS CASE? Take Home Message

35. Take Home Points Patient fails to gain weight under strict monitoring– expand your DDx Psychosocial issues may cloud your initial impression Growth parameters are very important! FTT with emaciation, euphoria, hyperactivity suggests diencephalic syndrome  Even with normal neuro exam  Think about neuroimaging

36. Happy Children’s Day! A national holiday in Vanuatu (an island in the South Pacific) Thanks for your participation… Did you enjoy the Pediatric Puzzler? Dr. Brown will help you manage GI bleeds. Be there at 12:15