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Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri
and literature review
#MMPMID28497078
Seylanian Toosi F
; Boloursaz S
; Abbasi B
; Hekmat R
; Mortazavi Ardestani R
; Mohajerzadeh M
J Renal Inj Prev
2017[]; 6
(2
): 76-79
PMID28497078
show ga
Joubert syndrome is a rare autosomal recessive disorder that may have different
clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus,
hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and
her older sibling, labeled as cerebral palsy. She had renal transplant years ago
without the true diagnosis of the disorder. Brain imaging revealed the classic
"molar tooth sign" appearance, and clinical evaluation established the diagnosis
for both of the siblings. Imaging should be done to evaluate the
neuroradiological findings of Joubert syndrome. With a neonate with Joubert
syndrome in a family, antenatal diagnosis by ultrasound is crucial for future
siblings.
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