Introduction: Central precocious puberty (CPP) is defined as premature activation of the hypothalamic-pituitary-gonadal axis, resulting in the development of secondary sexual characteristics before 8 years of age in girls. While most cases are idiopathic, intracranial pathologies such as pituitary lesions may cause CPP. Early identification is essential to optimize outcomes and minimize psychosocial impact. We report a case of CPP associated with pituitary microadenoma and pineal cyst from the Paediatric Department, Hospital Sultanah Nur Zahirah. Case: A 4-year-old female presented with bilateral breast enlargement, with ultrasonography showing normal fibroglandular tissue. Breast development was noted since 3 months of age, with whitish vaginal discharge from 2 years. She demonstrated accelerated growth, with height and weight above the 95th centile. There were no features suggestive of peripheral causes or raised intracranial pressure. Examination revealed Tanner stage A1B3P2. Bone age was markedly advanced (11 years vs. chronological age 4 years). Hormonal evaluation showed elevated LH (3.28 IU/L) and follicle-stimulating hormone (4.79 IU/L), consistent with CPP. MRI demonstrated focal delayed enhancement in the posterolateral pituitary suggestive of microadenoma, and an incidental pineal cyst without complex features. Ophthalmological assessment was normal. Neurosurgical evaluation advised conservative management with annual imaging surveillance. Intramuscular Triptorelin was initiated at 4 years 1 month. Follow-up showed regression of pubertal progression, resolution of vaginal discharge, and reduced growth velocity to 6 cm/year. Conclusion This case highlights the importance of thorough evaluation in CPP to identify underlying intracranial pathology. Early initiation of gonadotropin-releasing hormone analog therapy effectively halts pubertal progression and preserves growth potential.
Central Nervous System Cysts ; Puberty

OBJECTIVE: To explore the clinical characteristics and genetic cause of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) and to review the literature. METHODS: Clinical data of a child with gastrointestinal hemorrhage with CRMCC admitted to the Hepatology Department of Hunan Children's Hospital in September 2019 were collected, and peripheral blood DNA of the child and his parents were analyzed by whole exome sequencing. Candidate variants were validated by Sanger sequencing, followed by bioinformatics analysis, American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants pathogenicity classification, and protein structure prediction. A literature search with "Coats Plus syndrome" or "Cerebroretinal microangiopathy with calcifications and cysts" as keywords was conducted at PubMed, China National Knowledge Infrastructure and Wanfang databases to include recently published studies (up to December 2023). This study has been approved by the Ethics Committee of Hunan Children's Hospital (Ethics No. KY2020-07). Informed consent for clinical research was obtained from the guardian of the child. RESULTS: The proband was a 10-year-10-month-old boy. The clinical manifestations were intrauterine and postnatal growth retardation, gastrointestinal hemorrhage, liver fibrosis, panhemopenia, bilateral exudative retinopathy, intracranial lesions and facial pigmentation. WES and Sanger sequencing revealed two novel heterozygous variants in the CTC1 gene: c.787G>A (p.Val263Met) in exon 5 and c.2930C>G (p.Ser977Cys) in exon 17, which were inherited from his mother and father, respectively. According to ACMG pathogenicity classification, both missense variants were classified as variants of uncertain significance (VUS). Protein structure prediction showed the absence of LIG_SH3_3 motif and LIG_SH3_3 motif, and the p.Ser977Cys mutation may affect the binding between CST (CTC1-STN1-TEN) complex and DNA strand. The child had continued to experience recurrent gastrointestinal bleeding episodes despite propranolol treatment, but the condition was controlled after liver transplantation. According to the predefined literature search strategy of this study, a total of 10 relevant articles on pediatric CRMCC patients were retrieved, involving 11 children with gastrointestinal bleeding. Pharmacological and endoscopic therapies play a certain role in the management of CRMCC children complicated with gastrointestinal bleeding. CONCLUSION The CTC1 gene c.787G>A and c.2930C>G variants probably underlay CRMCC in this child. This study has broadened the variation spectrum of CTC1-related diseases and provided a basis for genetic counseling. Liver transplantation may be an important treatment for gastrointestinal hemorrhage in children who do not respond well to medication and endoscopic therapy.
Humans ; Male ; Gastrointestinal Hemorrhage/genetics* ; Child ; Calcinosis/genetics* ; Cysts/genetics* ; Central Nervous System Cysts/genetics* ; Mutation ; Exome Sequencing ; Leukoencephalopathies ; Retinal Diseases ; Seizures ; Muscle Spasticity ; Brain Neoplasms ; Ataxia

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.
Female ; Pregnancy ; Humans ; Holoprosencephaly ; Prenatal Diagnosis/methods* ; Central Nervous System ; Fetus/abnormalities* ; Nervous System Malformations/genetics* ; Microarray Analysis ; Central Nervous System Diseases ; Cysts ; Chromosome Aberrations ; Ultrasonography, Prenatal/methods*

Objective: To examine the clinical effect of simple muscle packing through transnasal sphenoid approach in the treatment of intrasellar arachnoid cyst. Methods: The clinical data of 11 patients with intrasellar arachnoid cyst treated by transnasal sphenoidal approach with simple muscle packing at the Neurosurgery Department of the First Affiliated Hospital of Zhengzhou University from January 2014 to February 2020 were retrospectively analyzed. There were 5 males and 6 females, with a median age of 48 years (range: 23 to 75 years). The clinical manifestations included headache in 6 cases, dizziness in 4 cases, hypo-libido in 1 case, disturbance of consciousness in 1 case, visual impairment in 7 cases and mixed pituitary dysfunction in 5 cases. The enlargement of the sellar fossa was seen in the preoperative MRI images. The enhanced MRI images showed that the cyst wall of the intrasellar arachnoid cyst was not enhanced, and the compression and thinning of the sellar base was seen in the CT images. In 9 cases, the cyst extended suprasellar and the sellar septum was "arched". In 7 cases, the cyst compressed the optic chiasm upward. The cyst walls of all patients were incised through the nasal sphenoid approach under the endoscope, and the muscle was packed after sufficient drainage. The postoperative symptoms, pituitary endocrine function and recurrence of patients were followed up. Results: MRI images of the sellar region in all patients showed significant reduction or disappearance of cysts. Intracranial infection occurred in 1 case and electrolyte disorder in 2 cases, which were relieved after symptomatic treatment. No cerebrospinal fluid rhinorrhea occurred. Postoperative clinical symptoms were completely relieved in 6 cases and partially relieved in 5 cases. Pituitary endocrine function recovered completely in 2 cases and improved significantly in 4 cases. All patients were followed up for 10 to 40 months. One patient found to have a partial recurrence of the cyst 3 months after surgery. Because there were no new symptoms appeared, the follow-up was continued without second operation. Conclusion: Transnasal sphenoidal approach is a feasible method for the treatment of intrasellar arachnoid cyst.
Adult ; Aged ; Arachnoid Cysts/surgery* ; Endoscopy ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscles ; Retrospective Studies ; Sella Turcica ; Young Adult

OBJECTIVE: To explore the clinical features and genetic variant in a child featuring megalencephalic leukoencephalopathy with subcortical cyst (MLC) type 2B. METHODS: Clinical and imaging data of the child was collected. Potential variant of hepatocyte adhesion molecule (HEPACAM) gene was detected by Sanger sequencing. The growth and development of her mother and uncle was also reviewed. RESULTS: The patient, a 1-year-and-7-month female, presented with convulsion, mental retardation and abnormally increased head circumference. Cranial MRI revealed extensive long T1 long T2 signals in the white matter of bilateral cerebral hemisphere, right anterior sac cyst, cerebral gyrus widening, and shallow sulcus. Sanger sequencing identified a c.437C>T missense variant in exon 3 of the HEPACAM gene. The same variant was detected in her mother but not father. Her mother and maternal uncle both had a history of increased head circumference when they were young. In their adulthood, the head circumference was in the normal range but still greater than the average. CONCLUSION The heterozygous variant of the HEPACAM gene probably underlies the MLC2B in this child. The variant has derived from her asymptomatic mother, which suggested incomplete penetrance of the MLC2B.
Adult ; Cell Cycle Proteins ; genetics ; Cerebrum ; diagnostic imaging ; Cysts ; diagnostic imaging ; genetics ; Female ; Genetic Variation ; Hereditary Central Nervous System Demyelinating Diseases ; diagnostic imaging ; genetics ; Humans ; Infant

We report 3 cases of arachnoid cysts (ACs) that completely disappeared after burr hole drainage, without cyst fenestration into the subarachnoid space or cystoperitoneal shunt. The first patient was a 21-year-old female with an AC of the right cerebral convexity, found incidentally. After endoscopic AC fenestration was performed, the patient complained of persistent headache. Two-month postoperative brain imaging revealed reaccumulated AC and associated multi-stage subdural hematoma. Burr hole drainage was performed to resolve the chronic subdural hematoma (CSDH). Three months later, brain computed tomography showed that the CSDH and the AC had disappeared. The second patient was an 11-year-old male who had a history of trauma 1 month prior to presentation at the clinic. Brain magnetic resonance imaging revealed an AC in the left sylvian fissure with CSDH. We performed burr hole drainage to treat the CSDH first. Subsequently, the AC as well as the CSDH disappeared. The third case was an AC of the right parietal convexity, found incidentally. Only burr hole drainage was performed, following which, the AC disappeared. This case series shows that an AC can disappear naturally after rupture into the subdural space by trauma or the burr hole procedure.
Arachnoid Cysts ; Arachnoid ; Brain ; Child ; Drainage ; Female ; Headache ; Hematoma, Subdural ; Hematoma, Subdural, Chronic ; Humans ; Magnetic Resonance Imaging ; Male ; Neuroimaging ; Rabeprazole ; Rupture ; Subarachnoid Space ; Subdural Space ; Trephining ; Young Adult

It is well known that the presence of arachnoid cysts (ACs) in young patients is a risk factor for developing a chronic subdural hematoma (CSDH) after a minor head injury. Although there have been controversies with the treatment, most authors recommend only draining the CSDH if the AC is asymptomatic. This judgement is based on the facts that this surgical approach has shown good clinical outcomes, and the AC usually remains unchanged after the surgery. Our case demonstrates that the AC of a young patient who developed a CSDH after a minor head injury completely disappeared after a burr hole drainage of the CSDH. Although the chances of an AC disappearing are low, this case shows that an AC might disappear after only draining a CSDH when a rupture of the AC membrane is identified. In such cases, we recommend first draining only the CSDH for the treatment of AC-associated CSDHs.
Arachnoid Cysts ; Arachnoid ; Craniocerebral Trauma ; Drainage ; Hematoma, Subdural, Chronic ; Humans ; Membranes ; Risk Factors ; Rupture

We report two rare cases of spontaneously regressed Rathke's cleft cyst (RCC). A 52-year-old woman presented with headache. A pituitary hormone study was normal. Brain magnetic resonance imaging (MRI) showed a 0.45-cm³ cystic sellar lesion. The cyst was hyperintense on T1-weighed imaging and hypointense on T2-weighted imaging without rim enhancement, comparable to a RCC. Six months later, brain MRI showed no change in the cyst size. Without any medical treatments, brain MRI 1 year later revealed a spontaneous decrease in cyst volume to 0.05 cm³. A 34-year-old woman presented with headache and galactorrhea lasting 1 week. At the time of the visit, the patient's headache had disappeared. Her initial serum prolactin level was 81.1 ng/mL, and after 1 week without the cold medicine, the serum prolactin level normalized to 11.28 ng/mL. Brain MRI showed a RCC measuring 0.71 cm³. Without further treatments, brain computed tomography 6 months later showed a spontaneous decrease in cyst volume to 0.07 cm³. Another 6 months later, brain MRI revealed that the cyst had remained the same size. Neither patient experienced neurological symptoms, such as headache or visual disturbance, during the period of cyst reduction. The RCCs in both patients underwent spontaneous regression without any medical treatment during a period of 6 months to 1 year. Although spontaneous regression of a RCC is rare, it is still possible and a sufficient follow-up period should be considered.
Adult ; Brain ; Central Nervous System Cysts ; Female ; Follow-Up Studies ; Galactorrhea ; Headache ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neoplasm Regression, Spontaneous ; Pregnancy ; Prolactin

Extremely massive sellar xanthogranuloma (XG) are rare, and the surgical outcome and prognosis are not well known. XG remain unknown whether they are derived from Rathke's cleft cysts (RCCs) or craniopharyngiomas (CPs) following extensive inflammation and metaplasia, to the point that no epithelium is readily identifiable. These lesions usually tend to occur in younger patients (mean 28.3 years), have a smaller diameter, and remain primarily intrasellar region with infrequent calcification. This 36-year-old man presented our hospital with visual deterioration. At the time of visit, there were no neurological problems other than visual field defect and hormonal disorder. He visited our hospital in 2007 due to headache and decreased vision, and underwent transphenoid surgery for pituitary RCC. Since then, he has received treatment at our hospital for postoperative hormonal disorders. Through preoperative imaging study, the author suspected CP and underwent surgery. During the operation, the adhesion of the tumor to the surrounding major neurovascular structures was severe in the naked eyes, but the tumor could be removed more easily than expected. The postoperative histological findings were confirmed as XG. The postoperative course was uneventful. Compared to the previous literature, this case is a case where the size of XG is very large in a sellar region and it can be proved that it originated from the RCC. And regular follow-up is necessary to confirm the prognosis after surgery.
Adult ; Central Nervous System Cysts ; Craniopharyngioma ; Epithelium ; Follow-Up Studies ; Headache ; Humans ; Inflammation ; Metaplasia ; Prognosis ; Visual Fields

Spinal extradural arachnoid cyst (SEAC) is a rare cause of spinal cord compression. Bifocal location of thoracic and sacral SEACs is rarely reported in the literature. We report a case of thoracic spinal cord compression by SEAC associated with asymptomatic multiple sacral Tarlov cysts (TC). The surgical management and postoperative outcome of the patient are discussed. A 34-year-old woman was referred to the hospital for acute thoracic pain with a history of chronic long-standing back pain. She complained of walking difficulties. Neurological examination demonstrated incomplete spastic paraplegia with sensory level in T9. Magnetic resonance imaging revealed a large cystic formation from T7-11 and at the level of the sacrum. We performed laminectomies at the level of interest from T7-11. The cysts were dissected from the underlying dura after removal of the cerebrospinal fluid. We found nerve tissue in the cysts. We excised the cyst and preserved the nerve roots. Subsequently, a duraplasty was performed with autologous grafts from the lumbar fascia. The condition of the patient improved after surgery and he was recovering well at follow-up. Although the surgical treatment of TC is controversial, especially at the sacral lumbar level, decompression at the dorsal level in this case is indisputable.
Adult ; Arachnoid ; Back Muscles ; Back Pain ; Cerebrospinal Fluid ; Decompression ; Female ; Follow-Up Studies ; Humans ; Laminectomy ; Magnetic Resonance Imaging ; Nerve Tissue ; Neurologic Examination ; Paraplegia ; Sacrum ; Spinal Cord Compression* ; Spinal Cord* ; Tarlov Cysts* ; Transplants ; Walking