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Diencephalic syndrome and von recklinghausen's disease.

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Diencephalic Syndrome
and von Recklinghausen’s Disease
Bruce Adornato, MD, and B r u c e Berg, MD
Two infants w i t h von Recklinghausen’s disease developed signs and symptoms of the diencephalic syndrome.
Pathological examination confirmed the presence of hypothalamic tumors i n both. The concurrence of these two
entities, although previously unreported, is not unexpected given the incidence of intracranial tumor in v o n
Recklinghausen’s disease a n d the diencephalic syndrome.
Adornato B, Berg B: Diencephalic syndrome and von Recklinghausen’s disease.
Ann Neuro12:159-160, 1977
The diencephalic s y n d r o m e , although suggested b y
earlier observers [ 11, was described m o s t eloquently
b y Russell [ 5 ] :
Each [patient] presented a uniform pattern of abnormal
manifestations woven around the emaciation which emerges
after ostensibly normal postnatal progress for three to
twenty-four months. The first clinical paradox resides in the
normal or even enhanced appetite accompanying the onset.
Secondly, in place of cachexia, the emaciation is incongruously linked with expressions of robust health: hyperkinetic
vivacity, an eager over-alertness, indiscriminate overfriendliness, and predominant elation, even true euphoria;
an initial growth spurt is also usual . . . The child’s transformation is soon unmistakable. The clinician regularly
sums up the single terse, almost pathognomonic observation: “very wasted and pale, but remarkably bright, cheerful
and active.” Photographs convey something of the puckish
charm and simian sparkle of these long, pale, profoundly
emaciated, but lovable clown children.
hausen’s disease a n d diencephalic s y n d r o m e is recorded.
Patient 1
Virtually all reported cases of diencephalic s y n d r o m e
h a v e been associated w i t h hypothalamic t u m o r s
classified as astrocytomas, polar spongioblastomas, or
oligoastrocytomas [GI. Patients with v o n Recklinghausen’s disease not u n c o m m o n l y have tumors of t h e
central n e r v o u s s y s t e m [2,41,and although previously
u n r e p o r t e d , it is n o t surprising that t h e y m a y h a v e
associated findings of t h e diencephalic s y n d r o m e .
We have had occasion to evaluate 2 infants with von
Recklinghausen’s disease, b o t h of whom had n u m e r ous c a f i au lait spots; 1 had scattered s u b c u t a n e o u s
neurofibromas i n addition. B o t h infants developed
typical s y m p t o m s a n d signs of the diencephalic syndrome and were shown to h a v e gliomas involving t h e
hypothalamus and optic n e r v e chiasm. The clinical
presentation of t h e s e 2 infants with v o n Reckling-
This male infant was the product of a full-term, normal
gestation period, labor, and delivery, and at birth weighed
3,180 gm. There was no family history of neurofibromatosis, although the mother was noted to have
several caf&au lait spots. T h e initial examination was unremarkable, and development was normal until 3 months of
age, when h e was noted to have multiple large cafi au lait
spots and an abnormally enlarging head. T h e neurological
examination continued to be unremarkable. A diagnosis of
von Recklinghausen’s disease was made and a pneumoencephalogram was interpreted as being normal, though there
was questionable minor irregularity of the floor of the third
ventricle; the ventricles were of normal size. During the
next three months vertical and rotary nystagmus became
apparent, and despite adequate caloric intake, the infant
failed to gain weight. A repeat pneumoencephalogram was
carried out at this time, demonstrating alarge mass filling the
anterior portion of the third ventricle and encroaching on
the foramens of Monro with dilatation of the lateral ventricles. Craniotomy was performed, and a portion of a large
tumor was resected; the tissue diagnosis was low-grade astrocytoma. A ventriculoperitoneal shunt was placed, and he
received 5,000 rads to bilateral opposed 5 x 6 cm fields with
a 4 mev linear accelerator over a period of 39 days.
He continued to lose weight and was readmitted four
months after the craniotomy because of cachexia. Height
was 78 cm (above the ninety-seventh percentile), weight was
6.5 kg (below the third percentile), and head circumference
was 5 1 cm (ninety-seventh percentile). He had a continual
downhill course and became obtunded, and ever-present
eye movements were seen. Pupils were 6 mm, central,
round, and regular but did not react to light. The optic discs
were pale white bilaterally, facial movements were symmetrical, and gag reflex was intact. Tone was markedly increased
From the Department of Neurology, University of California
School of Medicine, San Francisco, CA.
Accepted for publication Mar 14, 1977.
Address reprint requests to Dr Adornato, Medical Neurology
Branch, National Institute of Neurological and Communicative
Disorders and Stroke, National Institutes of Health, Bethesda, MD
throughout, and deep tendon reflexes were symmetrically
brisk, with extensor plantar responses. H e withdrew slowly
from noxious stimuli. The vital signs suddenly became erratic, and a ventricular tap was performed; the opening pressure was 200 ml H 2 0 . The ventricular fluid had 1,450 red
ceIIs and 12 white cells with protein and sugar levels of 120
mgidl and 38 mgidl, respectively (blood sugar at time of the
ventricular tap was 106 mgidl). Gram-positive cocci were
seen on smear, but the cultures were sterile. Shortly thereafter the infant had a cardiorespiratory arrest and died.
In addition to findings of severe cachexia and multiple
cafk au lait spots, pathological abnormalities at autopsy were
c o d n e d to the central nervous system. T h e brain weighed
1,350 gm; there was bilateral ventricular enlargement, and
the entire third ventricle was filled with a firm, yellow, cystic
mass that extended inferiorly to engulf the optic chiasm and
nerves. O n e could not tell whether the tumor oriBnated in
the optic nerve chiasm or the hypothalamus. A subependymal glioma measuring 0.5 cm2 was found in the floor of
the fourth ventricle. This tumor, as well as the larger
hypothalamic-optic nerve-chiasmal mass, was histologically
similar to that in the initial biopsy.
Patient 2
The patient was the product of a full-term, normal gestation
period, labor, and delivery, and at birth weighed 3,318 gm.
The newborn examination was normal, and he did well until
2 weeks of age, when he became febrile and an intraabdominal mass was palpated. At laparotomy a retroperitoneal
abscess was found and drained. The patient then progressed
well until 18 months of age, when he was noted to be
emaciated despite adequate caloric intake. His weight was 7
kg (below the third percentile), his height was 76 cm
(twenty-fifth percentile), and he was noted to have numerous cafk au lait spots and at least eight subcutaneous nodules
measuring 1 to 2 mm in diameter o n his arms, trunk, and
occiput. H e was alert and irritable. He could not sit alone
but could transfer objects from hand to hand and had a
pincer grasp. Cranial nerves were normal. There was severe
loss of muscle bulk throughout, but no fasciculations were
seen. The tone was normal, and deep tendon reflexes were
active and symmetrical with bilaterally flexor plantar responses. The child responded normally to touch and pain.
A clinical diagnosis of von Recklinghausen’s disease and
diencephalic syndrome was made, and radionuclide brain
scan demonstrated a mass in the region of the third ventricle. At pneumoencephalography a large mass was seen to fill
the entire third ventricle, without, however, causing ventricular dilatation. Craniotomy was performed, and a biopsy
of the mass was interpreted as showing a low-grade glioma.
T h e patient received 5,000 rads over aperiod of 90 days. H e
developed signs of panhypopituitarism and received replacement hormonal therapy.
This child has been followed on an outpatient basis and at
age 4 years 3 months was 85 cm tall (tenth percentile),
weighed 14 kg (third percentile), and had a head circumference of 49 cm (tenth percentile). He responds very little to
his environment, is unable to sit, stand or walk, and has no
language. Both optic discs are pale white, and he has severely decreased visual acuity. Pupils are round and regular
but react poorly to light. There is evidence of bilateral
hemiparesis, right greater than left, with brisk reflexes, again
160 Annals of Neurology Vol 2
No 2
August 1977
right greater than left, and bilaterally extensor plantar responses. He withdraws from noxious stimuli.
In a review of all recognized patients with diencephalic syndrome reported in the literature, Pelc [ 3 ]
found that 90% had extensive gliomas in the third
ventricle; 70% of these had additional gliomatous
involvement of the optic nerve chiasm, with concomitant decrease of visual acuity in one or both eyes.
Since the pathological picture of optic nerve chiasm
gliomas is similar to that of gliomas affecting the
hypothalamus, it is difficult, if not impossible, to
discern the precise origin of the tumor.
As noted, the association of von Recklinghausen’s
disease and diencephalic syndrome should not be surprising since tumors affecting the central nervous system in von Recklinghausen’s disease have frequently
been described. The reported incidence of optic
nerve gliomas in von Recklinghausen’s disease varies
from 10 to 50%, but it is more likely in the range of
20%. The 2 patients reported here had clinical evidence of von Recklinghausen’s disease, as manifested
by numerous cafk au lait spots and the subcutaneous
neurofibromas in 1. Both patients had gliomas of the
hypothalamus with involvement of the optic nerve
chiasm. A family history of von Recklinghausen’s disease was apparent in Patient 1, but Patient 2 had no
family member with unequivocal von Recklinghausen’s disease.
T h e importance of the association of von Recklinghausen’s disease and diencephalic syndrome is
twofold. The presence of cachexia or failure to thrive
in a child who has clinical evidence of von Recklinghausen’s disease or a family history of the disease
should provoke consideration of neuroradiological
procedures. Further, the simultaneous occurrence of
a hypothalamic tumor in neurofibromatosis and the
sporadic cases of diencephalic syndrome support the
view that diencephalic syndrome results from tumor
location rather than from the existence of a specific
disease entity.
1. Burr IM, Slonim AE, Danish RK, et al: Diencephalic syndrome
revisited. J Pediatr 88:439-444, 1976
2. Pearce J: The central nervous system pathology in multiple
neurofibromatosis. Neurology (Minneap) 17:691-697, 1967
3 . Pelc S: The diencephalic syndrome in infants. Eur Neurol
7:321-334, 1972
4. Rodriguez H, Berthrong M: Multiple primary intercranial
tumors in von Recklinghausen’s neurofibromatosis. Arch
Neurol 14:467-475, 1966
5. Russell A: A diencephalic syndrome of hyperkinetic emaciation
typically linked to predominant elation in infancy and early
childhood, in Congrb International de Neurologie.‘ Amsterdam, Excerpta Medica, 1957, sec VIII, pp 435-437
6. White F’T, Ross AT: Inanition syndrome in infants with anterior
hypothalamic neoplasms. Neurology (Minneap) 13:974-981,
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recklinghausen, syndrome, disease, diencephalic, von
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