JULY EDITION

PEDIATRIC PUZZLER

Chief Complaint

“Something is wrong with him”“I’m frustrated because he won’t gain

weight!”

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.

Birth and Developmental History

38 WGARepeat C/SNo perinatal complications, went home with

momBW 3.1kg

Gross motor: walked at 11 monthsVerbal: 3 wordsWell coordinatedNo obvious vision or hearing problems

Past Medical History

Constipation Treated with Miralax (polyethylene glycol) Hirschsprung was considered but not worked up b/c

he improved after MiralaxNKDAFood Allergies: Diarrhea after watermelon Immunzations: UTDFamily History: Uncle with wheat allergySocial: Lives with parents, and healthy 6 yo

sister; no daycare, no recent travel

Birth3.1kg (25%) 48.5 cm (25%)7mo 6.9 kg (10%) 67 cm (25%)13mo 7.1 kg (<<5%) 74 cm (25%)

Weight/age 4mo!!!

HC: 13 mo 45.5cm (25%)

Physical Exam

T 98.6 P 120 R 30 BP 94/54Gen: Thin but alert and well. HEENT: AF closed, OP clear, neck supple, no LAD or

thyromegalyCV: RRR no murmursLungs: CTABAbd: Soft, NT/ND, no HSM, no masses, GU: + Circ, testes descended, rectal exam with

normal toneSkin: subcutaneous tissue wasting, no rashNeuro: PERRL, EOMi, no gross cranial nerve

defects, normal tone, DTRs 2+ throughout, racing around room and babbling

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

What do you think?

DISCUSS AS A GROUP YOUR TOP 3 DIFFERENTIAL DIAGNOSES

WHAT 3 TESTS DO YOU WANT TO ORDER?

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

More History and Observations

The child was hospitalized for workup of FTTMother and son are observed to be well

bondedCalorie 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 foodsHowever, the child self-limits his intake to 75

kcal/kg/d

Labs/ Testing

CBC

CMP

ESR

Celiac Panel

Stool studies Heme Fat Reducing

Substances O/P

Calorie Count

EGD– mild esophagitis and gastritis

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?

SOMETHING DID NOT SIT RIGHT WITH THE PHYSICIAN

More Testing Done

More Labs Done

UA- normalSweat test- negative

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?

More and more labs

ThyroxineCortisolLactate Pyruvate(Growth hormone)

Normal!

Follow up

The patient still is eating poorly even after PPI for a few days

Not gaining weight wellParents 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?

What do you think?

DISCUSS AS A GROUP YOUR TOP 3 DIFFERENTIAL DIAGNOSES

ANY OTHER TESTS YOU WANT TO ORDER?

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 notedPlain CT of brain done-

3.5 x 3 x 3 cm hypodense suprasellar tumor is notedMRI

Enhancing hypodense mass that tracks posteriorly along optic tracts c/w astrocytoma

MRI showing solid, enhancing, suprasellar mass lesion in area of hypothalamus and third ventricle

Didn’t expect to see that, did you?

DIENCEPHALIC SYNDROME SECONDARY TO CHAISMATIC TUMOR!

Final Diagnosis

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?

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

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)

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

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

Diencephalic Syndrome

Emaciation occurs despite adequate energy intake

Linear growth is spared or even acceleratedHead circumference is usually normal

1/3 can have obstructive hydrocephalus Pseudohydrocephalic appearance

Abnormal neuro findings may be absent or slow to appear

Epidemiology

Mean age at onset of symptoms 6-12 moVery rare but patients with diencephalic

syndrome are often misdiagnosed Reflux Celiac Psychosocial

Symptoms

Feature Frequency

Emaciation 100%

Alert appearance 87%

Hyperkinesis 72%

Vomiting 68%

Euphoria 59%

Pallor 55%

Nystagmus 55%

Hydrocephalus 33%

Irritabilty 32%

Tremor 23%

Sweating 15%

Papilledema <5%

The Mass

The differential of the mass may include: Astrocytoma Germinoma Craniopharyngioma Histiocytosis Glioma

? Secondary to neurofibromatosis

Pathogenesis

Exact mechanism unknownBelieved to be due to hypothalamic factors

Growth hormone Location of tumor

Satiety center Euphoria center

WHAT ARE THE TAKE HOME MESSAGES IN THIS CASE?

Take Home Message

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

Happy Children’s Day! A national holiday in Vanuatu (an island in the South Pacific)

Thanks for your participation…

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