Faramarz Roohollahi1, Arad
Iranmehr2, Seyed Taher Mousavi3,
Mohammad Reza Hajiabadi1*
1 Neurological Surgery Department, Shariati Hospital Complex, Tehran
University of Medical Science, Tehran, Iran.
2 Neurological Surgery Department, Imam Khomeini Hospital Complex,
Tehran University of Medical Science, Tehran, Iran.
3 Department of neurosurgery, Tabriz University of Medical Science,
Tabriz, Iran.
* Corresponding author
Corresponding author: Mohammad Reza Hajiabadi
(dr.m.haji55@gmail.com)
Author Emails respectively:
faramarzroohollahi@yahoo.com,
arad.iranmehr@gmail.com,
dr.tahermusavi@gmail.com,
dr.m.haji55@gmail.com
consent statement:
Written informed consent was obtained from the patient to publish this
report in accordance with the journal’s patient consent policy
Abstract
This paper aims to introduce a patient with Chiari type 1 malformation
presented with upper extremity pain and diabetes insipidus. After
laboratory examinations, we confirmed our case’s central diabetes
insipidus diagnosis. The patient has undergone posterior fossa
decompression, tonsilopexy and duraplasty. After six months of
follow-up, pain and diabetes insipidus were improved. We introduced a
rare presentation of Chiari malformation in this article.
Introduction
CM (Chiari malformation) could have ambiguous presentations, ranging
from cervical pain to endocrine complications1. It has
been classified into four groups. In adulthood, type 1 is more
common2. CM is a complex disorder with extreme
diversity in presentation. Chiari type 1 is defined as 5 mm descending
cerebellar tonsils inferior to the basion-opisthion line (Mcrae line).
It can be accompanied by syrinx or not3.
Case presentation
A 40 years old man came to our clinic complaining of feeling pain in his
right hand. He also suffered from polyuria and polydipsia, which caused
him difficulty sleeping at night. The symptoms started three months
before his admission. Pain in the right upper extremity was progressive.
In the examination, he had an average height and weight (174 cm and
71kg). Stature seems to be normal. Vital signs, including blood
pressure, were in the normal range. Force of upper and lower extremities
was intact. There was no wasting or atrophy in muscles. DTRs of
extremities were in the normal range. Urine volume was more than 5
liters in 24 hours, and urine osmolarity was 250 mOsm/kg. Urine-specific
gravity was 1008. After the water deprivation test, urine osmolarity did
not rise significantly, but after desmopressin administration, it
increased to 600 mOsm/kg. Central DI was the most compatible diagnosis
for polyuria. We also performed a cervical MRI and laboratory
examination. MRI showed a tonsillar herniation of 5 mm and a compact
posterior fossa (figure1). There was no sign of cord tethering in the
whole spine MRI. Sella region was normal in brain MRI. Laboratory
examination revealed an elevated serum sodium level confirmed by
rechecking (Na: 150 – 155). The endocrine profile was normal. After the
nephrology consultation, the patient underwent an abdominal ultrasound
examination with no abnormal findings. Due to symptoms and imaging, we
did a posterior fossa decompression, tonsilopexy, and duraplasty without
C1 laminectomy. The intraoperative image is shown in figure 2.
In one month’s follow-up, the pain in the upper extremity was relieved.
In three months follow-up, urine frequency was reduced, and he had no
complaint of polydipsia. The laboratory findings revealed normal serum
Na levels.
Discussion
The exact pathology of CM is unknown. The key to diagnosing this
condition is a combination of clinical findings and
imaging4. Previous literature reported some
endocrinologic manifestations of CM, including precocious
puberty1. It seems to be a relation between
hypopituitarism and neurologic condition in Chiari patients. We see a
higher incidence of Chiari malformation associated with a growth hormone
deficiency, but there is no determinant response with growth hormone
replacement56. It could be related to dynamic
disturbances of intracranial or regional pressure on the
hypothalamic-pituitary axis. In our case, the patient presented with
polydipsia, polyuria, and high serum sodium. We confirmed central DI
diagnosis through our laboratory studies. Genetic studies have shown
that NFIA haploinsufficiency is associated with both urinary tract and
CNS malformations7. As we know, CNS malformation can
be seen with urinary tract abnormalities. In previous studies, it has
been proposed that injury to renal descending sympathetic fibers in
cervical cord injury leads to water retention and
sodium89. A tethered cord may cause the presence of
urinary symptoms in CM type 1 with a traction
mechanism10. Our patient did not show any clinical
signs of tethered cord, and there was not any sign of tethering in the
whole spine MRI. In 128 Chiari cases analysis in 2007, Guo and his
colleagues reported 2 cases of diabetes insipidus presentation, but
there is no information about improvement after surgery and
decompression of posterior fossa11. We did not find
any reported case of central DI in CM type 1 patients in the literature.
This is the first CM type 1 case reported with confirmed central DI,
which has been resolved after decompression surgery.
Conclusion
Chiari type 1 can manifest with different presentations. DI could be one
of the rare complications caused by CM type 1. DI responds well to
posterior fossa decompression and duraplasty.
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