Congenital Spinal Cysts: An Update and Review of the Literature.

Congenital spinal cysts are rare and encompass a wide variety of diseases including arachnoid, enterogenous, teratomatous, neurenteric, foregut, bronchogenic, epithelial, ependymal, dermoid, and epidermoid cysts. Here, we elucidate the epidemiology, pathology, pathogenesis, and diagnostic findings of the most common congenital spinal cysts, followed by a discussion of their presentation and treatment options. Differentiating the cause of each lesion is crucial for targeted clinical and surgical management for the patient. Our review describes how arachnoid cysts can be observed, fenestrated, percutaneously drained, or shunted; however, the primary goal for neurenteric, dermoid, and epidermoid cysts is removal. Further, we discuss how patient presentation is dependent on the rate of growth and location of compression on the spinal cord and nerve roots. However, although many of these lesions are discovered incidentally on imaging, the spectrum of possible symptoms include pain, weakness, ataxia, bladder incontinence, and progressive or acute neurologic deficits. We present and review the histology and imaging of a variety of cysts and discuss how although the goal of treatment is resection, the risks of surgery must be considered against the benefits of complete resection in each case.

Huge multiple spinal extradural meningeal cysts in infancy.

BACKGROUND: Multiple spinal extradural meningeal cysts (SEMCs) are rare lesions. SEMCs communicate with the subarachnoid space through multiple dural defects and expand into the extradural space with progressive spinal cord compression. CASE PRESENTATION: We report a 5-month-old boy with hydronephrosis involving nine huge SEMCs that were distributed from the T1-L5 levels. Eight SEMCs, except for one small noncommunicating cyst, were exposed through laminoplastic laminotomy at the T10-L5 and T3-5 levels. Five transdural communications with dural defects were packed with a piece of autologous muscle and fibrin glue. Tenting sutures to lift up the dura to the vertebral arch were added to minimize the extradural dead space. Postoperatively, cord compression was relieved and hydronephrosis improved. CONCLUSION: In conclusion, packing of all dural defects and dural tenting sutures at a one-staged operation is useful in the surgical management of huge and multiple SEMCs in infancy.

Stereotactic Internal Shunt Placement in Congenital Intracranial Cysts.

INTRODUCTION: Treatment of symptomatic intracranial cysts remains a controversial issue. We present a risk/benefit profile of a minimally invasive, not yet described, stereotactic internal shunt implantation technique. The provided data might serve as a reference against which other treatment modalities could be compared. METHODS: From our prospective database, we identified a consecutive series of patients with symptomatic, untreated cysts who had undergone internal shunting from 2009 to 2017. We estimated the rates of clinical symptom improvement (RCSI), cyst reduction, total complications, and long-term complications. A minimal follow-up of 6 months was required. The prognostic factors were obtained from logistic regression models. Cyst recurrence-free survival was calculated using the Kaplan-Meier method. The outcomes data were compared with those from reported alternative treatment strategies using χ2 statistics. RESULTS: We included 38 patients. The cyst locations differed greatly and included the cerebellum (n = 2), brainstem (n = 5), and pineal area (n = 4). Cyst-associated hydrocephalus (n = 6) resolved after treatment. The 2-year cyst recurrence-free survival rate was 97%. The RCSI and rate of cyst reduction, total complications, and long-term complications was 91%, 97%, 11%, and 2.6%, respectively. We did not find any risk factors associated with the rate of total complications. The RCSI and rate of total and long-term complications compared favorably (P < 0.01) with the corresponding estimates of alternative treatments (P < 0.01). CONCLUSIONS: The described stereotactic internal shunt implantation technique is safe and can be successfully applied for treatment of cystic formations in any location in the brain.

Delleman syndrome: A case report from West Africa - features and the challenges of management.

Delleman syndrome is a rare congenital disorder. We report an 8-month old female with a history of a fleshy mass covering the left eye since birth. Examination revealed poor vision in the left eye, an upper lid coloboma and an epibulbar dermoid with a large area of alopecia and scalp hypoplasia involving the left frontoparietal region. Transfontanelle ultrasound scan did not reveal any intracranial cyst. Cranial computerised tomography subsequently revealed characteristic cerebral malformations of Delleman syndrome. This report demonstrates clinical and computed tomographic features of a case of Delleman syndrome with emphasis on the usefulness of transfontanelle ultrasonography in assessing for life-threatening intracerebral cysts or hydrocephalus, particularly in resource-limited settings, where neuroimaging is not readily available or affordable.

Removal of a Presumed Peripheral Cerebral Cyst via Craniectomy in a Crested Pekin Duck ( Anas platyrhynchos f dom).

A juvenile, male crested pekin duck ( Anas platyrhynchos f dom) was presented for neurologic signs suggestive of cerebellar disease. Physical examination revealed microphthalmia, erratic head movements, and ataxia. Computed tomography scan of the head and neck regions revealed 2 full-thickness skull-bone defects within the caudal portion of the cranium. The cerebellum appeared to be ventrally compressed by a homogeneous, triangular, fluid-attenuating region (0-10 Hounsfield units). A craniectomy was performed, and a presumed peripheral cerebral cyst was removed with suction and gentle dissection. No postoperative complications occurred, and the patient showed clinical improvement for 5 months after surgery. However, after 5 months, the owners elected euthanasia because of poor prognosis after finding the duck minimally responsive in a water enclosure. At necropsy, a thin-walled, epithelial structure was present in meninges and was adhered to the skull at the presumed surgical site.

Fetal Infection by Zika Virus in the Third Trimester: Report of 2 Cases.

Zika virus (ZIKV) infection acquired during pregnancy is associated with congenital microcephaly. We describe 2 cases of ZIKV infection in women in their 36th week of pregnancy whose fetuses had preserved head circumference at birth and findings of subependymal cysts and lenticulostriate vasculopathy in postnatal imaging. These represent the first signs of congenital brain injury acquired due to ZIKV in the third trimester.

Connatal cyst in a preterm twin infant with maternal comorbidities.

BACKGROUND: Connatal cysts are rare but recognized periventricular cysts that represent anatomic variants and are associated with good neurological outcomes. These cysts can be differentiated from cysts that portend graver prognoses by their location in relation to the ventricles, size, laterality, and temporal resolution. PATIENT PRESENTATION: We describe a preterm twin infant born to a mother with diabetes and cardiovascular disease who was found to have connatal cysts on head ultrasound at 3 days of age. These cysts were present again on head ultrasound at 12 days of age and on brain magnetic resonance imaging at 27 days of age. The infant had a normal neurological examination in the neonatal period and on follow-up at 3 and 6 months of age. Repeated head ultrasound at 3 months of age demonstrated near resolution of the cysts. CONCLUSION: Connatal cysts are normal anatomic variants which clinicians should be able to distinguish from similar appearing cysts with less favorable outcomes. Although the etiology of connatal cysts remains unknown, this case raises the possibility of maternal comorbidities or perinatal hypoperfusion playing a role in their formation.

Network science in Egyptology.

Egyptology relies on traditional descriptive methods. Here we show that modern, Internet-based science and statistical methods can be applied to Egyptology. Two four-thousand-year-old sarcophagi in one tomb, one within the other, with skeletal remains of a woman, gave us the opportunity to diagnose a congenital nervous system disorder in the absence of a living nervous system. The sarcophagi were discovered near Thebes, Egypt. They were well preserved and meticulously restored. The skeletal remains suggested that the woman, aged between 50 and 60 years, was Black, possibly of Nubian descent and suffered from syringobulbia, a congenital cyst in the brain stem and upper spinal cord. We employed crowd sourcing, the anonymous responses of 204 Facebook users who performed a matching task of living persons' iris color with iris color of the Udjat eyes, a decoration found on Egyptian sarcophagi, to confirm the ethnicities of the sarcophagus occupants. We used modern fMRI techniques to illustrate the putative extent of her lesion in the brain stem and upper spinal cord deduced from her skeletal remains. We compared, statistically, the right/left ratios, a non-dimensional number, of the orbit height, orbit width, malar height and the infraorbital foramena with the same measures obtained from 32 ancient skulls excavated from the Fayum, North of Thebes. We found that these ratios were significantly different in this skull indicating atrophy of cranial bones on the left. In this instance, Internet science and the use of modern neurologic research tools showed that ancient sarcophagus makers shaped and decorated their wares to fit the ethnicity of the prospective occupants of the sarcophagi. We also showed that, occasionally, human nervous system disease may be recognizable in the absence of a living nervous system.

A case of split notochord syndrome: an adult with a spinal endodermal cyst mimicking an intramedullary tumor.

Intraspinal endodermal cysts are very rare congenital cysts, usually composed of a thin-walled cyst the lining of which mimics gastrointestinal or respiratory epithelium. Diagnosis is usually established during the first or second decade of life. These cysts are frequently associated with vertebral or spinal cord abnormalies and dual malformation with mediastinal or abdominal cysts. Collectively, they are called split notochord syndrome. The authors describe their experience in the treatment of a 57-year-old man having an endodermal cyst mimicking an intramedullary tumor at the level of Th1-2. He was admitted to our institution for evaluation of an intraspinal mass diagnosed by MRI at a local hospital after experiencing temporary numbness and weakness of the lower left extremity. T1-weighted sagittal MRI demonstrated the lesion with signal intensity iso- to slightly hypointense to the spinal cord without enhancement after administration of gadolinium. Although T2-weighted sagittal images demonstrated as hyperintense to the spinal cord, axial images revealed a passage between the mass and subarachnoid space. We could not completely rule out the presence of an intramedullary tumor and undertook a laminectomy with a posterior approach. Histopathological analysis revealed an endodermal cyst and the authors found syringomyelia, which was clearly separated from the cyst in the preoperative sagittal MRI and intraoperative ultrasonography study. To the best of our knowledge, this is the first report in the English literature of a thoracic endodermal cyst requiring differential diagnosis from a spinal cord tumor.

Cavum velum interpositum, cavum septum pellucidum, and cavum vergae: a review.

INTRODUCTION: Anterior midline intracranial cysts may be found most often in three forms: cavum septum pellucidum, cavum vergae, and cavum velum interpositum. A single offering that reviews these entities is difficult to find in the extant literature. Therefore, the present review was performed. MATERIALS AND METHODS: Various search engines and germane texts were reviewed for the terms cavum septum pellucidum, cavum vergae, and cavum velum interpositum. RESULTS: We report the findings of our search of the literature regarding these midline cystic structures. CONCLUSIONS: A better understanding of the associated anatomy, embryology, and pathology of these cysts will assist the clinician who treats such patients.

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.

Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts.

OBJECTIVES: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). METHODS: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. RESULTS: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). CONCLUSIONS: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.

Anterior choroid plexus cysts: distinction from germinolysis by high-resolution sonography.

BACKGROUND: The aim of the present paper was to develop criteria identifying anterior choroid plexus cysts (ACPC) and distinguish these from germinolytic pseudocysts. METHODS: Cerebral sonography was performed in 2200 neonates with mean gestational age 40 completed weeks (range 23-42 weeks) and mean birthweight of 3450 g (range 340-4610 g). In the last 300 neonates cystic formations in the caudothalamic groove were studied prospectively using a high-resolution ultrasound system with linear scanhead, and the previous results were re-evaluated. RESULTS: In 22 neonates choroid plexus cysts outside the typical location in the choroid plexus glomus could be attributed to the anterior part of the choroid plexus in the lateral ventricles (prospectively analyzed in 16 of 300 neonates: 5% prevalence on high-resolution sonography). ACPC were located medial and behind germinolytic pseudocysts and best realized during sweep of the scanhead through the caudothalamic groove. In contrast to germinolytic pseudocysts, they had a spherical form, no septation and a thick, partial double wall. Larger cysts seemed to bounce. CONCLUSIONS: ACPC are not rare and are identified by their location, form, and movement.

Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions.

Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, cerebral atrophy, mental retardation, glaucoma, seizures and hemiparesis. CT and MR are complementary in the evaluation of this disease. Epilepsy is an essential feature of Sturge-Weber syndrome and it has a major significance for prognosis and treatment. We report a 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported.

Spontaneous involution of a large pineal region hemorrhagic cyst in an infant. Case report.

The authors report the case of a newborn presenting at birth with macrocephaly and a large pineal region hemorrhagic cyst without neurological deficit. No neurosurgical intervention was performed, and subsequent imaging studies demonstrated complete involution of the cyst.

Occurrence of fetal choroid plexus cysts in siblings: concerns regarding recurrence and chromosomal abnormality.

Choroid plexus cysts (CPC) are a well-known ultrasound aneuploidy marker easily detectable at second-trimester ultrasound examination. However, their genetic etiology is totally unknown. We report two cases of Japanese mothers who carried two and three siblings respectively; all the fetuses that had CPC were noticed at second trimester. Genetic amniocentesis revealed that each fetus had different karyotypes, that is, trisomy 18 and 46,XX in the case of one mother, and trisomy 18, 46,XY and trisomy 21 in the case of the other. These observations indicate that the genetic basis of the cysts is not linked to abnormal chromosomes. We propose that careful ultrasound observation and genetic counseling of the siblings should be offered to patients who have previously had a baby with CPC, despite that baby having a normal karyotype.