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World Neurosurgery Oct 2019Intracranial epidermoid cysts are benign, congenital, keratinizing, squamous epithelial-lined cysts filled with keratin. They are uncommon and often pose a surgical...
BACKGROUND
Intracranial epidermoid cysts are benign, congenital, keratinizing, squamous epithelial-lined cysts filled with keratin. They are uncommon and often pose a surgical challenge owing to the adherence to surrounding structures. They are typically found at the cerebellopontine angle or in the parasellar region, where they are associated with abnormal development of the Rathke pouch; involvement of the pituitary stalk is rare.
CASE DESCRIPTION
The patient's electronic health record was queried for relevant data. A systematic review of the literature using dedicated search terms for cases of infundibular epidermoid cysts was conducted. We present a unique case of a 55-year-old male who presented with vision changes and was found to have a parasellar epidermoid cyst confined to the pituitary stalk. The patient underwent endoscopic transsphenoidal resection, and gross total resection was achieved. The patient's postoperative course was significant for possible chemical meningitis and the development of panhypopituitarism. The patient's vision subjectively improved after surgery.
CONCLUSIONS
Although 3 other cases of epidermoid cysts involving the pituitary stalk were identified, our patient's tumor was unique in that it was confined to the stalk. Our patient's case highlights a surgical approach to parasellar epidermoid cysts and the possible complications associated therewith.
Topics: Epidermal Cyst; Humans; Male; Middle Aged; Pituitary Gland
PubMed: 31284058
DOI: 10.1016/j.wneu.2019.06.205 -
World Neurosurgery Jul 2019The optimal surgical strategy for management of adult patients with craniopharyngioma remains controversial. To analyze the functional outcomes ofadult patients with... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
The optimal surgical strategy for management of adult patients with craniopharyngioma remains controversial. To analyze the functional outcomes ofadult patients with gross total resection (GTR) and subtotal resection (STR) of craniopharyngioma.
METHODS
MEDLINE, EMBASE, Scopus, and Cochrane databases were searched from inception to July 19, 2018, for articles comparing postoperative endocrine function, vision, complications, and recurrence rates for adult patients with GTR and STR of craniopharyngioma. The articles were analyzed by meta-analysis of proportions using a random-effects model to calculate summary odds ratios (ORs).
RESULTS
The initial search resulted in 2468 studies and 540 studies selected for full text review. Seventeen studies were included in the final analyses with 748 patients in the GTR cohort and 559 patients in the STR cohort. GTR resulted in a significantly lower likelihood of recurrence when compared with STR (OR, 0.106; 95% confidence interval [CI], 0.067-0.168; P < 0.001), but a significantly greater likelihood of panhypopituitarism (OR, 2.063; 95% CI, 1.058-4.024; P = 0.034) and permanent diabetes insipidus (OR, 2.776; 95% CI, 1.321-5.832; P = 0.007). There was no significant difference between the groups for postoperative worsened vision (P = 0.868), improved vision (P = 0.876), pathologic weight gain (P = 0.724), cerebrospinal fluid leak (P = 0.788), complications (P = 0.656), or death (P = 0.261).
CONCLUSIONS
This is the first systematic review of functional outcomes of adult patients with craniopharyngioma. GTR results in decreased likelihood of recurrence, but increased likelihood of postoperative panhypopituitarsm and permanent diabetes insipidus. Surgeons should be aware of these associations when determining the optimal operative strategy for adult patients with craniopharyngioma.
Topics: Adult; Craniopharyngioma; Endocrine System Diseases; Female; Humans; Male; Pituitary Neoplasms; Postoperative Complications; Treatment Outcome; Vision Disorders
PubMed: 30947004
DOI: 10.1016/j.wneu.2019.03.239 -
Journal of Neurosurgical Sciences Aug 2020To report an extremely rare case of sellar neuroblastoma, which mimicked invasive pituitary adenoma with supra- and parasellar extensions, treated through endoscopic...
INTRODUCTION
To report an extremely rare case of sellar neuroblastoma, which mimicked invasive pituitary adenoma with supra- and parasellar extensions, treated through endoscopic endonasal approach. A systematic review of the literature on diagnosis and management of patients affected by sellar neuroblastomas has been performed.
EVIDENCE ACQUIITION
A literature search according to the PRISMA statement was conducted using MEDLINE, Google Scholar, and EBSCO databases, searching for the following MeSH terms: (sellar OR parasellar OR suprasellar OR sphenoidal) AND (neuroblastoma OR extranasal esthesioneuroblastoma OR central neuroblastoma).
EVIDENCE SYNTHESIS
Sixty-eight studies were identified. We included 16 papers in our systematic review, comprising a total of 16 patients, 37.5% males and 62.5% females, with a mean age of 47.2 years. Visual disturbances were found in 56.2% of them, hyperprolactinemia in 43.7%, panhypopituitarism in 12.5%, normal pituitary function in 6.25%, SIADH in 25%, but no data is available in 25% of cases. Brain computed tomography and magnetic resonance imaging showed suprasellar and parasellar extension in 31.2% of patients, isolated suprasellar extension in 50%, isolated parasellar extension only in 6.25%, while in 1 case involvement of the petrous apex was described. Transcranial surgery (TCS) was performed for the removal in 31.2% of patients, transsphenoidal surgery (TSS) in 43.7%, a combined approach in 12.5%, and in two cases surgery was not performed due to poor general patient conditions. Adjuvant treatment with conventional radiotherapy (CRT) was performed in 62.5% of cases, gamma knife surgery (GKS) in 18.7%; in 12.5% it was not carried out, while in one case there was no data available. Absence of recurrence was documented in 50% of patients, recurrence that required further treatments in 25%, while in 25% there was no data available.
CONCLUSIONS
Primary sellar neuroblastoma is an extremely rare entity with high propensity to recur; whole body scintigraphy is recommended to search for extracranial locations, for optimum management of the disease. Special attention should be paid to endocrinological evaluation and management.
Topics: Adenoma; Adult; Female; Humans; Neuroblastoma; Pituitary Neoplasms
PubMed: 32347676
DOI: 10.23736/S0390-5616.20.04931-0 -
The Journal of Clinical Endocrinology... Mar 2022Lymphocytic hypophysitis (LyHy) is characterized by inflammation of the pituitary and or neuroinfundibulum and is uncommon. Treatment options include observation,... (Meta-Analysis)
Meta-Analysis
CONTEXT
Lymphocytic hypophysitis (LyHy) is characterized by inflammation of the pituitary and or neuroinfundibulum and is uncommon. Treatment options include observation, high-dose glucocorticoids (HD-GCs) or surgery. Optimal first-line management strategy, however, remains unknown.
OBJECTIVE
This work aimed to assess response to first-line treatment options (observation, HD-GCs, or surgery) of clinically relevant outcomes (symptomatic, hormonal, and radiographic improvement) among patients with LyHy.
METHODS
A systematic review was conducted in 6 databases through 2020. Meta-analysis was conducted when feasible using a random-effects model.
RESULTS
We included 33 studies reporting on 591 patients (423 women, 72%) with LyHy. Improvement/resolution of anterior pituitary dysfunction was highest when HD-GCs was first-line treatment. Surgery was associated with the greatest proportion of patients who had regression on imaging. Subgroup analysis comparing HD-GCs to observation showed the odds of anterior pituitary hormone recovery (OR 3.41; 95% CI, 1.68-6.94) or radiographic regression (OR 3.13; 95% CI, 1.54-6.36) were higher with HD-GCs, but so was the need for additional forms of treatment (OR 4.37; 95% CI, 1.70-11.22). No statistically significant difference was seen in recovery of diabetes insipidus (OR 0.9; 95% CI, 0.26-3.10). Certainty in these estimates was very low.
CONCLUSION
Observation and use of HD-GCs both are successful first-line management strategies in LyHy. Although use of HD-GCs was associated with increased recovery of anterior pituitary hormone deficit, it also was associated with greater likelihood of additional treatment after withdrawal. Optimal dosing and duration of HD-GCs remains unknown.
Topics: Autoimmune Hypophysitis; Female; Glucocorticoids; Humans; Hypopituitarism; Male; Pituitary Diseases; Pituitary Hormones, Anterior
PubMed: 35137155
DOI: 10.1210/clinem/dgab839 -
Child's Nervous System : ChNS :... Jul 2019Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes...
PURPOSE
Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established.
METHODS
We reported two cases of hydranencephaly complicated by CDI. We also performed a systematic review of the SCOPUS and PubMed databases for case reports and case series of patients with hydranencephaly and CDI, and compiled data on the clinical features and treatment options.
RESULTS
Seven cases of hydranencephaly complicated by CDI were identified from the systematic review in addition to the two cases reported here, resulting in a total of nine cases. The patients' age ranged from 4 days to 4 years, and there was a female sex predilection (3.5:1). Patients most commonly presented with macrocephaly, developmental delay, and seizures, with dysmorphic features noted in 33%. In addition to CDI, other endocrinologic derangements included hypothyroidism (22%), hypocortisolemia (22%), and panhypopituitarism (22%). CDI was treated using sublingual or oral desmopressin while hypopituitarism was treated with the appropriate hormone replacement therapy. Insertion of a ventriculoperitoneal (VP) shunt was reported in 44% of cases.
CONCLUSION
The case reports and systematic review suggest a previously unknown association between hydranencephaly and CDI. Clinicians managing cases of hydranencephaly are advised to have a high index of suspicion for CDI in patients presenting with the characteristic signs and symptoms.
Topics: Diabetes Insipidus, Neurogenic; Female; Humans; Hydranencephaly; Infant; Tomography, X-Ray Computed; Treatment Outcome; Ventriculoperitoneal Shunt
PubMed: 30929071
DOI: 10.1007/s00381-019-04137-9 -
Pituitary Oct 2021POU1F1 mutations are prevalent in Indian CPHD cohorts. Genotype-phenotype correlation is not well-studied.
CONTEXT
POU1F1 mutations are prevalent in Indian CPHD cohorts. Genotype-phenotype correlation is not well-studied.
AIM
To describe phenotypic and genotypic spectrum of POU1F1 mutations in our CPHD cohort and present systematic review as well as genotype-phenotype analysis of all mutation-positive cases reported in world literature.
METHODS
Retrospective study of POU1F1 mutation-positive patients from a western-Indian center. PRISMA guidelines based pubmed search of published literature of all mutation-positive patients.
RESULTS
Our cohort had 15 POU1F1 mutation-positive patients (9 index, 6 relatives). All had severe GH, TSH and prolactin deficiencies (GHD, TSHD and PD). TSHD was diagnosed earliest followed by GHD (median ages: TSHD-6 months, GHD-3 years), while PD was more variable. Two sisters had central precocious puberty at 7 years of age. Pubic hair was deficient in all post-pubertal patients (females: P1-P2, males: P3-P4). Splice-site/intronic/frameshift mutations were most common, while missense/nonsense mutations were less frequent (33%). Review of world literature yielded 114 patients (82 index patients) from 58 studies. GHD was present in all patients. TSHD was spared in 12.5% and PD in 4.4% patients. Missense/nonsense mutations accounted for 75% of spectrum. Phenotype-genotype analysis revealed higher mean peak-GH levels (1.1 vs 0.2 ng/ml, p = 0.008) and lower prevalence of anterior-pituitary hypoplasia (63.6% vs 86.3%, p = 0.03) in patients with heterozygous than homozygous and compound heterozygous mutations.
CONCLUSIONS
We present largest series of POU1F1 mutation-positive patients. Precocious puberty and defective pubarche are lesser-appreciated phenotypic features. Our mutation spectrum is different from that of world literature. Patients with heterozygous mutations have milder phenotype.
Topics: Female; Humans; Hypopituitarism; Male; Mutation; Retrospective Studies; Transcription Factor Pit-1; Transcription Factors
PubMed: 33742319
DOI: 10.1007/s11102-021-01140-9 -
Pituitary Apr 2024To explore the potential role of focused radiotherapy in managing the lymphocytic hypophysitis (LH) refractory to medical therapy and surgery.
Successful treatment of medically and surgically refractory lymphocytic hypophysitis with fractionated stereotactic radiotherapy: a single-center experience and systematic literature review.
PURPOSE
To explore the potential role of focused radiotherapy in managing the lymphocytic hypophysitis (LH) refractory to medical therapy and surgery.
METHOD
A systematic literature review was conducted following PRISMA guidelines to identify the studies on radiation treatment for hypophysitis, along with the experience in our institution.
RESULTS
The study included eight patients, three from our institution and five from existing literature. The age at presentation ranged from 37 to 75 years old, with a median age of 58. The presenting symptoms involved headache in seven patients and diplopia in two patients. Pre-radiation visual field defects were noticed in four patients. All patients exhibited variable degrees of hypopituitarism before radiation, with oral corticosteroids being the initial medical treatment. Immunosuppressive therapy was attempted in two patients prior to radiation. Seven patients had a history of transsphenoidal surgery with a histologically confirmed LH. Three patients underwent stereotactic radiosurgery (SRS), while the remaining received FSRT, with a mean irradiation volume of 2.2 cm. A single-session total dose of 12 -15 Gy was administered in the SRS group. In the FSRT group, doses ranged from 24 to 30 Gy with a median dose of 25 Gy, delivered in 2 Gy fractions. Four patients achieved a resolution of visual field defects, while another two patients demonstrated improvement in their associated focal neurologic deficits. No change in pre-existing endocrine status was shown after radiation, except in one patient. Clinical response was achieved in seven patients after a single course of radiation, while one patient required the second course. Six patients remained stable on low-dose glucocorticoid during at least a 12-month follow-up period, and one discontinued it entirely without experiencing relapse. Three patients demonstrated a complete radiologic response, while the remaining showed a partial radiologic response.
CONCLUSIONS
Focused radiation, including FSRT, can play a role in symptomatic relief, effective mass shrinkage, and minimizing radiation exposure to critical surrounding structures in patients with refractory LH. However, further research efforts are necessary to better clarify its effects and optimal dose planning.
Topics: Humans; Adult; Middle Aged; Aged; Radiosurgery; Autoimmune Hypophysitis; Dose Fractionation, Radiation; Hypopituitarism; Treatment Outcome; Retrospective Studies
PubMed: 38270722
DOI: 10.1007/s11102-023-01367-8 -
Clinical Neurology and Neurosurgery Jun 2018It is unclear whether the endoscopic technique has any advantages over transcranial approach in the aspect of endocrine outcomes in patients with craniopharyngiomas,... (Comparative Study)
Comparative Study Meta-Analysis
It is unclear whether the endoscopic technique has any advantages over transcranial approach in the aspect of endocrine outcomes in patients with craniopharyngiomas, thus, we conducted a systematic review and meta-analysis. We conducted a comprehensive search of PubMed to identify relevant studies. Pituitary, hypothalamus functions and recurrence were used as outcome measures. A total of 39 cohort studies involving 3079 adult patients were included in the comparison. Among these studies, 752 patients across 17 studies underwent endoscopic transsphenoidal resection, and 2327 patients across 23 studies underwent transcranial resection. More patients in the endoscopic group (75.7%) had visual symptoms and endocrine symptoms (60.2%) than did patients in the transcranial group (67.0%, p = 0.038 and 42.0%, p = 0.016). There was no significant difference in hypopituitarism and pan-hypopituitarism after surgery between the two groups: 72.2% and 43.7% of the patients in endoscopic group compared to 80.7% and 48.3% in the transcranial group (p = 0.140 and p = 0.713). We observed same proportions of transient and permanent diabetes insipidus in both groups. Similar recurrence was observed in both groups (p = 0.131). Pooled analysis showed that neither weight gain (p = 0.406) nor memory impairment (p = 0.995) differed between the two groups. Meta-regression analysis revealed that gross total resection contributed to the heterogeneity of recurrence proportion (p < 0.001). We observed similar proportions of endocrine outcomes and recurrence in both endoscopic and transcranial groups. More recurrences were observed in studies with lower proportions of gross total resection.
Topics: Cohort Studies; Craniopharyngioma; Craniotomy; Endocrine System Diseases; Humans; Neuroendoscopy; Pituitary Neoplasms; Treatment Outcome
PubMed: 29655011
DOI: 10.1016/j.clineuro.2018.04.009