We report the case of a 52-year-old woman who developed vertical diplopia of 1-days duration. Neuro-ophthalmological testing revealed left trochlear nerve palsy, and sellar MRI revealed a 1.5 cm-sized pituitary mass lesion, a Rathke's cleft cyst. The diplopia disappeared spontaneously after 6 days.
Central Nervous System Cysts/*complications/pathology ; Female ; Human ; Magnetic Resonance Imaging ; Middle Aged ; Trochlear Nerve Diseases/*etiology/pathology

BACKGROUNDRathke's cleft cyst (RCC) is one of the most common incidentally discovered sellar lesions, while symptomatic cases are relatively rare. Surgical treatment is recommended for symptomatic patients to drain the cyst content and to remove the capsule safely. The aim of this study was to clarify the clinical features, surgery considerations and therapy outcomes of symptomatic RCCs.

METHODSTotally 42 patients (19 males and 23 females) were retrospectively reviewed with the diagnosis of RCCs under surgery resection at the Affiliated Hospital of Medical College, Qingdao University between January 2005 and December 2010.

RESULTSPatients' age ranged from 6 to 67 years (mean of 41.6 years). The duration of symptoms ranged from 4 days to 10 years. Headache (69%), visual impairment (36%), and pituitary dysfunction (10%) were the most common presenting symptoms. The maximum diameter of cysts ranged from 6.0 to 46.7 mm (mean of 20.07 mm). Of the 42 patients, 36 underwent endonasal transsphenoidal approach and the others underwent transcranial approach. Thirty patients had a subtotal resection and decompression, while 12 patients had a total cyst resection. Cysts of 28 patients were lined by simple cubical or columnar epithelium, and cysts of 34 patients were filled by amorphous colloid material, that was the characteristic of RCCs. The majority of patients presented with a simple headache, and 93% of this group experienced a complete improvement after surgery. Twelve of 15 patients (80%) with preoperative visual deficits experienced an improvement in their vision after surgery. All of those patients with pituitary dysfunction experienced an improved endocrine status. The endocrinological complication usually was diabetes insipidus, and postoperative transient diabetes insipidus occurred in 13 (31%) patients without any permanent diabetes insipidus. The overall recurrence rate was 7% at a mean follow-up of 22 months (range 12 - 60 months).

CONCLUSIONSSurgical treatment is to drain the contents of the cyst and to remove the capsule as much as possible under the precondition that does not increase the complications. Biopsy and decompression procedures are recommended for most cases.

Adolescent ; Adult ; Aged ; Central Nervous System Cysts ; diagnosis ; pathology ; surgery ; Child ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

OBJECTIVE: The study is conducted to define the preoperative radiological findings of Rathke's cleft cysts (RCCs) differentiating these lesions from other sellar/parasellar cystic tumors. METHODS: A retrospective study of 65 patients with RCC patients from two institutes (53 cases / 12 cases) was performed. All patients had preoperative magentic resonance imaging(MRI) studies, and computed tomography(CT) studies were available in 25 patients. RESULTS: Calcification detectable on CT scanning was present in only 8% of RCC patients. Of the patients who were available for precontrast CT images, 48% had cysts of low attenuation, 28% had cysts of the same attenuation, and 24% had cysts of increased attenuation relative to the brain. Of the patients who had postcontrast CT images, 84% showed no significant change following contrast agent administration, and 16% demonstrated rim enhancement. MR imaging revealed multiple patterns. In T1-weighted sequences, 55.4% showed hyperintense signals, 27.7% showed hypointense signals, 12.3% showed isointense signals, and we saw a mixed-intense signal in 4.6%. In T2-weighed images, we observed a hyperintense signal in 60%, a hypointense signal in 20%, a mixed-intense signal in 13.8%, and an isointense signal in the remaining 6.2%. In Gd-DTPA enhanced images, 72.3% of the 65 patients showed no enhancement either of the cyst contents or of the cyst wall, and 27.7% demonstrated rim enhancement. Forty-five of the 65 patients were preoperatively diagnosed as RCCs. CONCLUSION: RCCs show variable CT and MRI characteristics. There is no unique finding for this pathology. Thus, even with CT and MRI studies, differential diagnosis with other cystic lesions of the sellar/parasellar region remains difficult.
Academies and Institutes ; Brain ; Central Nervous System Cysts ; Diagnosis, Differential ; Gadolinium DTPA ; Humans ; Magnetic Resonance Imaging ; Pathology ; Retrospective Studies ; Tomography, X-Ray Computed

Sellar arachnoid cysts are rare; an infected arachnoid cyst is extremely rare as only one case has been reported to date in the literature. Here, we report a patient with an infected or inflamed sellar arachnoid cyst that was successfully treated with transsphenoidal surgery (TSA). A 53-year-old female with a history of chronic sinusitis developed a headache 5 months ago, and one month before admission polyuria, polydipsia, and abnormal vaginal bleeding occurred. The magnetic resonance imaging (MRI) showed a sellar cystic mass with a thickened pituitary stalk. Preoperative hormonal study revealed normal pituitary hormone levels except for a moderate elevation of prolactin. She was diagnosed with diabetes insipidus of the central nervous system origin based on a water-deprivation test. TSA was performed under an impression of symptomatic Rathke's cleft cyst according to the MRI findings. Intraoperative findings showed confirmation of turbid intracystic contents, but micro-organisms were unidentified on microbial culture. Pathology of the cyst wall revealed inflamed meningoepithelial lining cells compatible with an arachnoid cyst.
Arachnoid Cysts ; Arachnoid* ; Central Nervous System ; Diabetes Insipidus ; Female ; Headache ; Humans ; Inflammation ; Magnetic Resonance Imaging ; Middle Aged ; Pathology ; Pituitary Gland ; Polydipsia ; Polyuria ; Prolactin ; Sinusitis ; Uterine Hemorrhage

Pituitary adenoma (PA) is a common benign neuroendocrine tumor; however, the incidence and proportion of hormone-producing PAs in Korean patients remain unknown. Authors analyzed 506 surgically resected and pathologically proven pituitary lesions of the Seoul National University Hospital from 2006 to 2011. The lesions were categorized as: PAs (n = 422, 83.4%), Rathke's cleft cysts (RCCs) (n = 54, 10.6%), inflammatory lesions (n = 8, 1.6%), meningiomas (n = 4), craniopharyngiomas (n = 4), granular cell tumors (n = 1), metastatic renal cell carcinomas (n = 2), germinomas (n = 1), ependymomas (n = 1), and unsatisfactory specimens (n = 9, 1.8%). PAs were slightly more prevalent in women (M: F = 1:1.17) with a mean age of 48.8 yr (9-80 yr). Immunohistochemical analysis revealed that prolactin-producing PAs (16.6%) and growth hormone-producing adenomas (9.2%) were the most common functional PAs. Plurihormonal PAs and nonfunctioning (null cell) adenomas were found in 14.9% and 42.4% of patients with PAs, respectively. The recurrence rate of PAs was 11.1%, but nearly 0% for the remaining benign lesions such as RCCs. 25.4% of patients with PAs were treated by gamma-knife after surgery due to residual tumors or regrowth of residual tumor. In conclusion, the pituitary lesions and the proportions of hormone-producing PAs in Korean patients are similar to those of previous reports except nonfunctioning (null cell) PAs, which are unusually frequent.
Adenoma/*pathology ; Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Central Nervous System Cysts/pathology ; Child ; Female ; Growth Hormone/metabolism ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Pituitary Neoplasms/*pathology ; Prolactin/metabolism ; Recurrence ; Sex Factors ; Young Adult

OBJECTIVETo explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC).

METHODGenomic DNA samples were extracted from peripheral blood of the proband and her parents. All exons and exon-intron boundaries of HEPACAM and MLC1 were amplified in the MLC family by polymerase chain reaction (PCR) followed by direct DNA sequencing.

RESULTTwo heterozygous mutations of HEPACAM located in exon 2, c.203A > T(p.K68M) and c.395C > A(p.T132N), were identified in the proband. The proband's mother had the heterozygous mutations c.203A > T(p.K68M), and her father had the heterozygous mutation-c.395C > A(p.T132N). There was no variation found in MLC1 gene.

CONCLUSIONThe proband was heterozygous compound MLC patient carrying on one allele with the c.203A > T(p.K68M) mutation inherited from her mother, and the other allele with the c.395C > A(p.T132N) mutation inherited from her father. The parents both are heterozygous carriers with normal phenotype. The disease-causing gene for this family was resulted in HEPACAM mutation other than MLC1 mutation.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Cysts ; genetics ; pathology ; DNA Mutational Analysis ; Exons ; Female ; Genotype ; Hereditary Central Nervous System Demyelinating Diseases ; genetics ; pathology ; Heterozygote ; Humans ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Phenotype ; Proteins ; genetics

OBJECTIVETo identify potential mutation in the MLC1 gene in a Chinese family affected with megalencephalic leukoencephalopathy and subcortical cysts (MLC), and to provide prenatal diagnosis.

METHODSGenomic DNA of the patients, their parents and younger sister were extracted from peripheral blood. That of the fetus was extracted from an amniotic fluid sample. A total of 12 exons and at least 100 bp flanking the intronic sequence of the MLC1 gene were amplified with PCR. MLC1 mutations were screened by sequencing. Linkage analysis was performed for the family to assure accuracy of prenatal diagnosis.

RESULTSThe two patients were both heterozygote for c.177_178delG (p.Ser60AlafsX5) mutation in exon 2 and c.598-2A>C change in intron 7. The c.177_178delG mutation was inherited from the father, and the c.598-2A>C mutation was inherited from the mother. The younger sister and the fetus have both inherited c.177_178delG from the father but did not inherit c.598-2A>C from the mother. Prenatal diagnosis suggested the fetus to be a carrier for a MLC1 mutation. Linkage analysis was consistent with the result of mutation detection. The fetus was born normal as predicted.

CONCLUSIONThe c.598-2A>C is a novel splicing mutation. Prenatal diagnosis through DNA sequencing and linkage analysis were performed for the first time on Chinese patients with MLC.

Adolescent ; Base Sequence ; Brain ; pathology ; Cysts ; diagnosis ; genetics ; DNA Mutational Analysis ; Exons ; Female ; Genetic Linkage ; Genetic Testing ; Hereditary Central Nervous System Demyelinating Diseases ; diagnosis ; genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Membrane Proteins ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis