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A further case of Hutterite cerebro-osteo-nephrodysplasia

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American Journal of Medical Genetics 72:386 (1997)
Letter to the Editor
A Further Case of
Hutterite Cerebro-Osteo-Nephrodysplasia
To the Editor:
Opitz et al. [1985] reported on 2 sisters from the
Lehrerleut group of Hutterites with an apparently
unique clinical syndrome. One of the sisters died at 2
and the other at 3 years, having made minimal developmental progress. Unfortunately, family considerations prevented autopsy examination. However, the
clinical course was one of a severe degenerative cerebral condition.
Recently I saw another patient with the same clinical
presentation who is a first cousin once removed of the
2 sisters reported previously. She was born after a 37week gestation and weighed 3,289 g. Apgar scores were
4 and 8 at 1 and 5 min, respectively, and she required
oxygen for approximately 3 days for temporary respiratory distress. In the first weeks of life she did not
suck well and began to arch her back at the same time.
She was also noted to have abnormal eye movements,
i.e., in a tonic upward gaze position with intermittent
down-beating nystagmus. She had difficulty in maintaining a normal head position (extensor posturing) at
5 months and there were still problems in sucking and
swallowing, and the unusual eye movements. Her tone
was increased and she appeared to exhibit clonus when
sitting or lying on her back. An EEG was abnormal,
showing an excess of monorhymthmic theta with absence of other expected rhythms, involving diffusely
the entire brain. A CT scan showed some abnormalities
with slightly large ventricles and a suggestion of generalized cerebral atrophy. There was significant hypoplasia in the Sylvian fissure area. Further investigations, such as an MRI, were declined by the family. At
age 9 months a skeletal survey of the long bones failed
to demonstrate any evidence of dysplasia, and a repeat
CT scan showed marked bilateral frontal and left parietal atrophy. Abdominal ultrasound findings were
normal. Urine metabolic screen was negative, and
plasma and urinary amino acids were within normal
limits. An ophthalmologist queried the possibility of
*Correspondence to: R.B. Lowry, 1820 Richmond Rd, S.W., Calgary, Alberta T2T 5C7, Canada.
Received 17 February 1997; Accepted 17 February 1997
© 1997 Wiley-Liss, Inc.
primary cortical visual impairment. An auditory brainstem response at this time showed normal hearing
thresholds in the right ear with decreased thresholds
in the left. At age 10 months she was admitted to hospital with a 7-day history of nasal congestion, and increased frequency of extensor posturing movements of
the trunk with decorticate posturing of both upper and
lower limbs. There was no tonic or clonic activity or any
focal seizures. At 11 months she was still not sitting
and could not hold up her head. She constantly lay in
an extensor position with head well-retracted, and had
some clonic movements when handled. Her length of 70
cm was between the 10th and 25th centiles, weight of
8.8 kg was between the 25th and 50th centiles, and
head circumference of 46.1 was just above the 50th
centile. At this age she did not display any kidney or
skeletal abnormalities.
Her presentation and course are so similar to those of
the 2 sisters described previously that I am of the opinion she has the same syndrome. Unfortunately, as with
the other patients, it will likely not be possible to do
any further investigations. In this issue of the Journal
there is a paper by Udler et al. describing a 15-year-old
girl with cerebro-osteo-nephrosis syndrome, and they
comment that it may be the same syndrome as that
described in the Hutterite sisters with the differences
being explained by pleiotropy; however, they do mention the possibility of different conditions involving
separate genes. In my view the latter is more likely
because of the extreme difference between the presentation in the Hutterite patients as compared to the Yemenite Jewish patient of Udler et al. Clearly further
cases and investigations are required to clarify the
situation.
REFERENCE
Opitz JM, Lowry RB, Holmes TM, Morgan K (1985): Hutterite cerebroosteo-nephrodysplasia: Autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet 22:521–529.
R.B. Lowry*
Department of Medical Genetics
Alberta Children’s Hospital
University of Calgary
Calgary, Alberta, Canada
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osteo, cerebro, nephrodysplasia, hutterite, case
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