Clinician’s Corner

Case 3: An eight-month-old boy

with failure to thrive
A full-term eight-month-old boy was admitted to hospital for
evaluation of failure to thrive (FTT). After initially thriving,
by six months of age his weight had dropped from the 90th to the
15th percentile.
He had a four-month history of nonbloody, nonbilious emesis
and a worsening feeding aversion. Stool pattern remained normal.
There was no sweating or increased work of breathing with feeds.
Physical examination revealed a pale, emaciated infant with
little subcutaneous fat. He was alert, active and engaging. He was

Downloaded from https://academic.oup.com/pch/article-abstract/19/9/463/2647278 by guest on 13 July 2019

afebrile with stable vital signs. His weight was 6.89 kg (<3rd per-
centile; 69% ideal body weight) (Figure 1). His head growth was
stable (25th percentile) and length was preserved (75th percentile).
He had no dysmorphic features, a flat anterior fontanel and normal
tone. The remainder of his examination was unremarkable.
Investigations included a normal complete blood count, elec-
trolyte levels and renal function tests. A work-up for fat, carbohy-
drate and protein malabsorption was negative. An upper
gastrointestinal swallowing study revealed normal anatomy.
Lansoprazole and domperidone were initiated for gastro-
esophageal reflux disease. His vomiting improved; he tolerated
fortified feeds, demonstrated adequate weight gain and was dis-
charged home with follow-up.
One week later, he was readmitted with weight loss and new
symptoms.
A further test led to the diagnosis.

Figure 1) The patient’s growth chart. Note the plateau in weight, resulting
in the crossing of multiple percentile lines

Correspondence (Case 3): Dr Carolyn E Beck, Division of Paediatric Medicine and Paediatric Outcomes Research Team, Department of Paediatrics and
the Research Institute, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8.
Telephone 416-813-8965, fax 416-813-8345, e-mail carolyn.beck@sickkids.ca
Case 3 accepted for publication February 18, 2014.

Paediatr Child Health Vol 19 No 9 November 2014 ©2014 Pulsus Group Inc. All rights reserved 463
Clinician’s Corner

Case 3 Diagnosis:
A
Diencephalic Syndrome
Staring spells and eye deviation prompted electroencephalography
and brain magnetic resonance imaging. Electroencephalography
was normal, but magnetic resonance imaging revealed a large
suprasellar enhancing mass, extending superiorly into the third
ventricle and obstructing the foramen of Monro, resulting in mod-
erately dilated ventricles. Metastases were present in the cerebel-
lum and spinal cord (Figure 2).
The location of this tumour, in conjunction with a pale, ema-
ciated infant with an alert and happy affect, led to a diagnosis of
diencephalic syndrome (DS). Growth hormone (GH) and corti-
sol levels were normal. Subsequent biopsy demonstrated a neuro- B
cytic tumour with proliferative vasculature, for which

Downloaded from https://academic.oup.com/pch/article-abstract/19/9/463/2647278 by guest on 13 July 2019

chemotherapy was initiated. Our patient’s course was compli-
cated by raised intracranial pressure requiring ventriculoperiton-
eal shunt insertion, and insertion of a gastrostomy tube for
supplemental nutrition. Sadly, our patient’s tumour proved
refractory to chemotherapy, and he passed away 25 months after
his diagnosis.
FTT is one of the most common problems in paediatrics. It is
identified when a child’s weight falls below the third percentile
or crosses two major percentile lines. An approach to FTT
requires a detailed history and physical examination with tar- Figure 2) A Magnetic resonance image showing the tumour in an axial
geted investigations. Recognition and treatment of FTT is slice. B Magnetic resonance image showing the tumour in a sagittal
important to prevent long-term adverse outcomes associated slice. The position of the tumour is typical for diencephalic syndrome
with malnutrition.
DS, first reported in 1951, is a rare but well-described cause of
FTT in infancy and childhood. Associated with tumours of the account of potentially significant neurological and endocrine
anterior hypothalamus, classic features of this syndrome include sequelae, and radiation at therapeutic doses is also associated
profound emaciation (despite adequate caloric intake), near with risks due to the immature central nervous system of young
absence of subcutaneous adipose tissue, hyperkinesis, and an alert children (5). Without treatment, the mean survival time of
and happy affect (1). patients with DS is approximately 12 months (2,5). Accurate
DS typically presents in infancy and early childhood. A figures regarding long-term survival in DS are difficult to obtain
review of 72 patients with DS found that the mean age at symp- due to the rarity of this syndrome and paucity of the literature
tom onset was 6.2 months; 86% of patients presented within the regarding DS.
first year of life (2). There is often a considerable time lag
between symptom onset and diagnosis, possibly due to the overall CLINICAL PEARLS
rarity of DS in the context of the extremely common presenta- • When evaluating a child with FTT, a systematic approach
tion of FTT (2,3). that considers a broad differential diagnosis is imperative to
Medical attention is usually sought on account of FTT (1,2). avoid missing rare but treatable causes.
Despite the lack of weight gain, patients’ linear growth is charac-
• DS is a rare but important cause of FTT in an infant or
teristically spared (1,2). Their head circumference is usually nor-
young child.
mal, although it may be increased secondary to hydrocephalus (2).
On laboratory investigation, GH levels are often elevated (2-4). • Classic features of DS include profound emaciation, near
While the etiology for this is unclear, one group proposes DS as a absence of subcutaneous adipose tissue, hyperkinesis, and an
model of partial GH resistance (3). alert and happy affect, associated with anterior hypothalamic
Notably, the neurological manifestations of DS are subtle, con- tumours. Neurological symptoms that would typically prompt
sisting of the aforementioned behavioural features, and develop- neuroimaging can be subtle.
ment is usually normal or precocious (2,3). The most common true
neurological finding is nystagmus, present in 55% of cases (2). The Andrea Human MD
nonspecific clinical features of DS and its variable presentation Kamal Eltobgy MD MSc
reflects the lack of understanding of its pathogenesis, and alerts the Department of Paediatrics
clinician to keep an open mind with respect to differential diagno-
ses of FTT (2-4). Carolyn E Beck MD MSc
Gliomas are reported to account for 93% of tumours associ- Department of Paediatrics, Division of Paediatric Medicine and the
ated with DS, with astrocytomas arising from the hypothalamic Paediatric Outcomes Research Team, The Hospital for Sick Children,
and optic chiasm region being most common (2,4). Astrocytomas University of Toronto, Toronto, Ontario
associated with DS are generally larger, more aggressive and
occur at a younger age than astrocytomas in the absence of DS REFERENCES
1. Russell A. A diencephalic syndrome of emaciation in infancy and
(4). The majority of patients are treated with a combination of childhood. Arch Dis Child 1951;26:274.
surgery and chemotherapy, with adjunct radiotherapy when indi- 2. Burr IM, Slonim AE, Danish RK, Gadoth N, Butler IJ.
cated (3,5). Complete surgical resection is often limited on Diencephalic syndrome revisited. J Pediatr 1976;88:439-44.

464 Paediatr Child Health Vol 19 No 9 November 2014

 Clinician’s Corner

3. Fleischman A, Brue C, Poussaint TY, et al. Diencephalic syndrome:

A cause of failure to thrive and a model of partial growth hormone
resistance. Pediatrics 2005;115:e742-8.
4. Poussaint TY, Barnes PD, Nichols K, et al. Diencephalic syndrome:
Clinical features and imaging findings. Am J Neuroradiol
1997;18:1499-505.
5. Gropman AL, Packer RJ, Nicholson HS, et al. Treatment of
diencephalic syndrome with chemotherapy: Growth, tumor
response, and long term control. Cancer 1998;83:166-72.

Downloaded from https://academic.oup.com/pch/article-abstract/19/9/463/2647278 by guest on 13 July 2019

Paediatr Child Health Vol 19 No 9 November 2014 465