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Cureus Aug 2023Pituitary gland shrinkage or flattening obscures it from view on an MRI, giving the impression that it is an empty sella. On the other hand, if some viable pituitary...
Pituitary gland shrinkage or flattening obscures it from view on an MRI, giving the impression that it is an empty sella. On the other hand, if some viable pituitary gland tissue is still seen on the MRI scan, a diagnosis of partial empty sella can be made. Diminished physiological and functional reserve in the elderly can result in a bad prognosis if not treated early. Therefore, there is a need to become familiar with fewer known causes and presentations of the empty sella or partial empty sella syndrome in older patients. We report a case of a 71-year-old female with multiple known ailments presenting with hypotension as the sole symptom. It urged us to investigate further and reach the root cause as partial empty sella syndrome with panhypopituitarism.
PubMed: 37791188
DOI: 10.7759/cureus.44494 -
Cureus Aug 2023The presence of pregnancy in a brain-dead woman is a rare circumstance. We present a case of a 31-year-old woman who was 22 weeks pregnant at the time of diagnosis of...
The presence of pregnancy in a brain-dead woman is a rare circumstance. We present a case of a 31-year-old woman who was 22 weeks pregnant at the time of diagnosis of brain death after intracranial and subarachnoid hemorrhage. After a multidisciplinary approach, the decision was made to continue somatic support to maintain the pregnancy until optimal fetus viability. Cesarean section was performed after 11 weeks (33 weeks gestational age) of brain-death diagnosis with a successful delivery of a live infant. Management of brain-death complications during pregnancy is described.
PubMed: 37753021
DOI: 10.7759/cureus.44172 -
International Journal of Surgery Case... Oct 2023Sheehan's syndrome (SS) is a rare cause of hypopituitarism resulting from postpartum haemorrhage and pituitary necrosis. It remains an underdiagnosed condition,...
INTRODUCTION
Sheehan's syndrome (SS) is a rare cause of hypopituitarism resulting from postpartum haemorrhage and pituitary necrosis. It remains an underdiagnosed condition, especially in developing countries due to poor obstetric care and home deliveries. This case report highlights the significance of recognizing atypical presentations of SS, such as pancytopenia, to aid in early diagnosis and management.
CASE PRESENTATION
A 40-year-old female presented with acute abdomen symptoms and was initially diagnosed with acalculous cholecystitis. However, a detailed history revealed a history of postpartum haemorrhage 18 years prior, leading to a provisional diagnosis of SS. Further investigations confirmed panhypopituitarism, including hypothyroidism, hypocortisolism, and hypogonadism. Notably, the patient also exhibited pancytopenia, a rarely reported haematological manifestation of SS.
DISCUSSION
SS often presents with nonspecific symptoms, leading to delayed or missed diagnoses. In this case, the patient's initial presentation of acute abdomen symptoms was attributed to secondary adrenal insufficiency due to panhypopituitarism. The presence of pancytopenia, along with hyponatremia, further complicated the clinical picture. Hormone replacement therapy led to a remarkable improvement in the patient's condition, emphasizing the importance of early diagnosis and intervention.
CONCLUSION
SS is a common cause of panhypopituitarism in developing countries, but its atypical presentations, such as pancytopenia, are rare and often overlooked. This case highlights the need for increased awareness among clinicians to consider SS in patients with unexplained haematological abnormalities, particularly in regions with high rates of postpartum haemorrhage. Early recognition and appropriate hormone replacement therapy can significantly improve patients' outcomes and prevent long-term complications associated with this underdiagnosed syndrome.
PubMed: 37738831
DOI: 10.1016/j.ijscr.2023.108831 -
The Journal of Clinical Pediatric... Sep 2023Combined pituitary hormone deficiency (CPHD) is a rare disorder caused by a complete absence of the anterior pituitary gland hormones. The Dental manifestation,...
Combined pituitary hormone deficiency (CPHD) is a rare disorder caused by a complete absence of the anterior pituitary gland hormones. The Dental manifestation, managmnet and two-year-follow-up of a case of a 12-year-old patient with CPHD is reported in this paper. A 12-year-old male patient with medical history of congenital CPHD and vitamin D deficiency presented for dental treatment. The patient looked tired and younger than his chronological age. Intraoral examination revealed good oral hygiene, generalized edematous gingiva, physiological pigmentation and high maxillary labial frenum attachment. The occlusion examination, showed class I molars, 2 mm overjet and 90% overbite. Single anterior tooth #21 crossbite with 1.5 mm diastema. Also, Miller's class I recession in tooth #31 with a probing depth of 1 mm, and grade I mobility. The treatment plan was formulated in phases, and the primary physician consultation was obtained and a clearance for dental treatment with a recommendation to double the hydrocortisone dose before a stressful dental procedure was recommended. Preventive and restorative programs were planned and provided. Then, the lower lingual holding arch was provided after the extraction of mandibular primary canines with composite turbo, and tooth #21 crossbite was corrected using a nance appliance with Z spring. Finally, the patient was recommended to attend follow-up visits every three months. During which the preventive program was reinforced and the restorative treatments were reevaluated. At the 2-year-follow-up satisfactory and stable aesthetic and functional results were obtained. This report highlights the oral manifestations, the value of establishing a preventive program, and restorative, and orthodontic interventions among patients with CPHD.
Topics: Male; Humans; Child; Hypopituitarism; Overbite; Cuspid; Dental Care
PubMed: 37732453
DOI: 10.22514/jocpd.2023.069 -
Child's Nervous System : ChNS :... Oct 2023In spite of the continuous progresses in pediatric neurosurgery, adamantinomatous craniopharyngioma (AC) remains a challenging tumor due to its proximity to optic... (Review)
Review
BACKGROUND
In spite of the continuous progresses in pediatric neurosurgery, adamantinomatous craniopharyngioma (AC) remains a challenging tumor due to its proximity to optic pathways, pituitary gland, hypothalamus, and Willis' circle, which can result in significant endocrine, cognitive, and neurological morbidity after treatment with subsequent impact on the patient's quality of life (QoL). The relevance that QoL has today explains the changes in the management of AC observed over the time. The goal of the present article is to provide a historical background, to show the milestones in the changes of the AC treatment, and to analyze the current main options to manage such a challenging tumor.
MATERIAL AND METHODS
The pertinent literature has been reviewed. Moreover, a comparison between the past and recent personal series is reported.
RESULTS
Three main eras have been identified. The first (named Cushing era) was characterized by the need to realize a harmless surgery and to define the best way to approach AC; the second (microscope era) was characterized by a tremendous technical and technological development, with remarkable results in term of safe tumor resection and control but relatively poor QoL outcomes; and the third one (current period) is characterized by an increasing integration between surgery and adjuvant treatments, with relatively minor tumor control but significant improvement of QoL (comparable overall survival). The authors' experience reflects these changes. Two groups of children were compared: 52 cases (mean follow-up: 17.5 years) belong to the historical series (group 1, 1985-2003, aggressive surgical management) and 41 (mean follow-up: 8.5 years) to the current one (Group 2, 2004-2021, integrated management). No significant differences between the two groups were detected about recurrence rate, surgical mortality, and overall survival. However, Group 2 showed significant lower rates of postoperative panhypopituitarism, obesity, and visual deterioration.
CONCLUSIONS
Radical surgery allows for a good AC control with a low rate of recurrence but high risk of permanent morbidity. Despite the greater number of recurrences and surgeries, the more conservative policy, based on a combination of treatments, seems to provide the same tumor control with a better QoL. The advances in trans-nasal and trans-ventricular endoscopy, in proton therapy and in the management of the AC cyst are the main factors that allowed such an improvement.
Topics: Child; Humans; Craniopharyngioma; Quality of Life; Treatment Outcome; Pituitary Neoplasms; Retrospective Studies
PubMed: 37728836
DOI: 10.1007/s00381-023-06143-4 -
Journal of Neurosurgery. Pediatrics Nov 2023The optimal extent of resection of craniopharyngiomas to minimize the long-term risks of hypothalamic and endocrine dysfunction (obesity and panhypopituitarism) in...
OBJECTIVE
The optimal extent of resection of craniopharyngiomas to minimize the long-term risks of hypothalamic and endocrine dysfunction (obesity and panhypopituitarism) in children remains uncertain. The purpose of this study was to report long-term outcomes of pediatric patients with craniopharyngioma undergoing surgical treatment and to study rates of endocrinological and hypothalamic dysfunction in association with extent of resection.
METHODS
This retrospective study was performed in a cohort of children who underwent resection for craniopharyngioma at Children's of Alabama between 1990 and 2020. The primary outcome was hypothalamic dysfunction defined as a 0.5 increase in body mass index (BMI) Z-score and as a BMI > 2 SDs with or without psychiatric disturbances. Univariable analysis was performed using ANOVA, Wilcoxon rank-sum test, Pearson's chi-square test, and Fisher's exact test as appropriate. Missing data on the primary outcome were handled via multiple imputations. Relative risks were estimated using a multivariable generalized linear model with a priori variables selected using a modified Poisson regression approach with robust error variance to estimate risk ratios.
RESULTS
The cohort includes 39 patients (24 girls and 15 boys; age range 1 month-16 years) who underwent resection of craniopharyngioma at the authors' center between 1990 and 2020. The preoperative goal of treatment was cyst decompression (CD) in 5, subtotal resection (STR) in 13, and gross-total resection (GTR) in 21 patients. The median long-term follow-up after surgery was 8.11 years (average 8.21, range 0.4-24.33 years). Univariate analysis demonstrated a statistically significant increase in hypothalamic dysfunction in patients undergoing GTR when compared to those undergoing STR or CD at 1 month postoperatively (p = 0.006) and 6-11 months postoperatively (p = 0.010), but with this difference not persisting beyond 1 year. Multivariable analysis showed patients older than 10 years at time of surgery to be the most affected and at highest risk of developing significant hypothalamic dysfunction. There was no significant difference in pituitary or neurological function between the STR/CD and GTR groups at 12-24 months or at most recent follow-up. There was no significant difference in BMI Z-scores between the STR/CD and GTR groups at 6-12 months or at most recent follow-up.
CONCLUSIONS
Both STR and GTR of craniopharyngioma were associated with significant endocrinological sequelae after 1 year. These potential complications should be discussed with patients and their families, and postoperative protocols should include early nutritional and endocrinological interventions with endocrinologist consultation.
Topics: Male; Female; Humans; Child; Infant; Craniopharyngioma; Retrospective Studies; Pituitary Neoplasms; Treatment Outcome; Hypothalamic Diseases; Morbidity; Neoplasm Recurrence, Local
PubMed: 37728405
DOI: 10.3171/2023.5.PEDS22568 -
Journal of Neurosurgery. Case Lessons Sep 2023Ameloblastic carcinoma (AC) is a rare odontogenic carcinoma with histological features resembling ameloblastoma. Metastasis to distant organs and direct expansion into...
BACKGROUND
Ameloblastic carcinoma (AC) is a rare odontogenic carcinoma with histological features resembling ameloblastoma. Metastasis to distant organs and direct expansion into the skull base structures are associated with a poor clinical outcome. This rare case of AC metastasis to the pituitary gland presented without local recurrence at the primary focus of the maxilla.
OBSERVATIONS
A 47-year-old man had a 2-year history of AC in the right maxilla. Computed tomography for his regular checkup incidentally demonstrated pituitary tumor, rapidly growing over 2 months. He presented with the recent onset of panhypopituitarism and visual field defect. Magnetic resonance imaging showed a large, irregularly shaped intrasellar and suprasellar lesion with chiasmal compression. Endoscopic endonasal transsphenoidal surgery was performed for decompression of the optic apparatus to avoid intracranial spread. Histopathology confirmed metastatic AC, and a genetic panel test confirmed BRAF V600E mutation. Stereotactic radiotherapy (SRT) with the CyberKnife system was administered to the residual tumor. Remarkable tumor shrinkage was obtained, and panhypopituitarism was resolved 12 months later.
LESSONS
A multidisciplinary treatment strategy including maximal safe resection to avoid dissemination in combination with SRT may be crucial for local control with the preservation of pituitary and visual functions in patients with solitary pituitary metastatic AC.
PubMed: 37728240
DOI: 10.3171/CASE23264 -
Cureus Sep 2023Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its...
Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its nonspecific clinical presentation as respiratory distress symptoms, it can mimic choanal atresia. Although isolated forms have been described, CNPAS is often associated with other congenital midline malformations. A single median incisor is usually found, with or without other cervical and maxillofacial malformations. The existence of hypothalamic-pituitary axis malformations with endocrine disorders is also possible and, in some cases, a moderate to severe intellectual deficit in association with other brain malformations. Radiological investigation is a central point in the multidisciplinary management of this type of polymalformative syndrome.
PubMed: 37711266
DOI: 10.7759/cureus.45153 -
Hormones (Athens, Greece) Dec 2023Central diabetes insipidus (CDI) is a rare condition caused by various underlying diseases, including neoplasms, autoimmune diseases, and infiltrative diseases.... (Review)
Review
BACKGROUND
Central diabetes insipidus (CDI) is a rare condition caused by various underlying diseases, including neoplasms, autoimmune diseases, and infiltrative diseases. Differentiating between CDI etiologies is difficult. What has initially been classified as "idiopathic" central diabetes insipidus might in fact underlie various pathogenic mechanisms that are less understood to date and/or are not obvious at initial presentation. Therefore, even if idiopathic CDI is diagnosed at the time of onset, it is common for tumors such as germinoma to develop during surveillance. Crucially, a delayed diagnosis of germinoma may be associated with a worse prognosis. Recently, the presence of anti-rabphilin-3A antibodies has been found to be a highly sensitive and specific marker of lymphocytic infundibuloneurohypophysitis, an autoimmune-mediated CDI.
CASE PRESENTATION
We herein present two cases, namely, a 13-year-old boy (patient 1) and a 19-year-old young man (patient 2) who were diagnosed with idiopathic CDI. In both patients, panhypopituitarism developed. Magnetic resonance imaging revealed pituitary stalk thickening and pituitary swelling approximately 1 1/2 years after the onset of CDI. Western blotting did not reveal the presence of anti-rabphilin-3A antibodies in serum in either patient, suggesting that autoimmune mechanisms might not be involved. Both patients were subsequently diagnosed with germinoma on pathological examination. They received chemotherapy, followed by radiation therapy. Notably, testosterone and insulin-like growth factor-1 levels normalized, and libido and beard growth recovered after chemoradiotherapy in patient 2.
CONCLUSION
Our data suggest that the absence of anti-rabphilin-3A antibodies in young patients clinically diagnosed with idiopathic CDI may increase the probability of the development of non-lymphocytic lesions, including germinoma. We thus recommend a more attentive approach at the onset of these diseases.
Topics: Adolescent; Child; Humans; Male; Young Adult; Diabetes Insipidus; Diabetes Insipidus, Neurogenic; Diabetes Mellitus; Germinoma; Magnetic Resonance Imaging; Neoplasms; Pituitary Gland
PubMed: 37697216
DOI: 10.1007/s42000-023-00484-0 -
Pituitary Oct 2023To analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD).
PURPOSE
To analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD).
METHODS
This is a prospective cross-sectional study, conducted over a period of three years in a short stature clinic of tertiary care referral hospital. 57 severe short stature children with proven GHD were included in the study.
RESULTS
Among 57 children with GHD, 14 (24%) were diagnosed as PSIS. The mean age at diagnosis was 11.8 ± 2.6years. The male to female ratio was 2.5:1. Nine (64%) children had multiple pituitary hormone deficiency (MPHD) and 5 (36%) had isolated growth hormone deficiency (IGHD). In spite of absent or ectopic posterior pituitary (EPP)in Magnetic Resonance Imaging (MRI) of PSIS cohorts, only one had Arginine vasopressin (AVP) deficiency. EPP was seen near median eminence in 6 (44%), elsewhere in 4 (28%), and absent in 4 (28%)children. The height gain following growth hormone therapy was better in PSIS cohorts as compared to non-PSIS.
CONCLUSION
Male gender, breech presentation, external congenital anomalies like cryptorchidism, midline defects and nystagmus were more common in children with PSIS. MPHD were more frequently seen in PSIS whereas IGHD in non-PSIS cohort. AVP deficiency is very rare in PSIS despite of absent or ectopic posterior pituitary in MRI. High index of clinical suspicion in all severe short stature may lead to early diagnosis and prompt initiation of growth hormone treatment for better outcome.
Topics: Adolescent; Child; Female; Humans; Male; Cross-Sectional Studies; Dwarfism, Pituitary; Growth Hormone; Human Growth Hormone; Hypopituitarism; Magnetic Resonance Imaging; Pituitary Gland; Pituitary Hormones; Prospective Studies
PubMed: 37695468
DOI: 10.1007/s11102-023-01351-2