Zika Virus Associated with Microcephaly Mlakar, Jernej; Korva, Misa; Tul, Nataša ...
The New England journal of medicine,
2016-Mar-10, Letnik:
374, Številka:
10
Journal Article
Recenzirano
Odprti dostop
A widespread epidemic of Zika virus (ZIKV) infection was reported in 2015 in South and Central America and the Caribbean. A major concern associated with this infection is the apparent increased ...incidence of microcephaly in fetuses born to mothers infected with ZIKV. In this report, we describe the case of an expectant mother who had a febrile illness with rash at the end of the first trimester of pregnancy while she was living in Brazil. Ultrasonography performed at 29 weeks of gestation revealed microcephaly with calcifications in the fetal brain and placenta. After the mother requested termination of the pregnancy, a fetal autopsy was performed. Micrencephaly (an abnormally small brain) was observed, with almost complete agyria, hydrocephalus, and multifocal dystrophic calcifications in the cortex and subcortical white matter, with associated cortical displacement and mild focal inflammation. ZIKV was found in the fetal brain tissue on reverse-transcriptase-polymerase-chain-reaction (RT-PCR) assay, with consistent findings on electron microscopy. The complete genome of ZIKV was recovered from the fetal brain.
During the period of fetal development, myelination plays a key role and follows specific time and spatial sequences. The water content in the brain is inversely proportional to myelination - the ...more myelinated the brain, the lower the water content in it. The diffusion of water molecules can be quantitatively assessed using the apparent diffusion coefficient (ADC). We were interested in whether, by determining the ADC values, we could quantitatively evaluate the development of the fetal brain.
The study included 42 fetuses with gestational age 25 to 35 weeks. We manually selected 13 regions on diffusion-weighted images. Statistically significant differences between ADC values were checked using one-way analysis of variance and Tukey's post hoc test. The relationship between the ADC values and the gestational age of the fetuses was then assessed using linear regression.
The average gestational age of the fetuses was 29.8 ± 2.4 weeks. ADC values in the thalami, pons and cerebellum differed significantly among each other and from the ADC values in other brain regions. In the thalami, pons and cerebellum, linear regression showed a significant decrease in ADC values with increasing gestational age.
ADC values change with the increasing gestational age of the fetus and differ among different brain regions. In the pons, cerebellum and thalami, the ADC coefficient could be used as a biomarker of fetal brain maturation since ADC values decrease linearly with increasing gestational age.
The major part of craniopharyngioma (CP) morbidity is the tumor and/or treatment-related damage, which results in impaired function of the hypothalamic-pituitary axes and metabolic derangements. The ...aim of the study was to analyze the prevalence of long-term endocrine and metabolic comorbidities in a national cohort of CP patients based on the age at diagnosis and histology criteria.
A retrospective-prospective longitudinal cohort analysis.
Forty-six patients with CP treated from 1979 onwards (19 with childhood-onset disease) in a single university institution were included in our study. Median follow-up from presentation was 12.8 years (interquartile range: 8.3-22.2 years) and comparable between age-at-diagnosis and histological subtype groups. Data on tumor histology were extracted from patients' records and re-evaluated if tissue samples were available (n = 32).
Childhood-onset patients presented more frequently with headache, and adult-onset with visual impairment. Prevalence of at least one pituitary axis affected increased from 54% at presentation to 100% at follow-up in childhood-onset and from 41 to 93% in adult-onset CP. Growth hormone deficiency, central diabetes insipidus, and panhypopituitarism were more prevalent in childhood-onset adamantinomatous CP (aCP) and least prevalent in adult-onset papillary CP (pCP). At follow-up, metabolic syndrome (MetS) was diagnosed in 80% of childhood-onset and 68% of adult-onset patients (p = 0.411). In the latter group, it tended to be more frequent in the aCP than pCP subtype (80 vs. 50%, p = 0.110).
Long-term endocrine and metabolic complications are very frequent in childhood- and adult-onset CP patients of both histological subtypes. The prevalence of MetS was higher compared to the largest cohort previously reported.
Background Childhood and adult-onset craniopharyngioma is a rare embryogenic tumor of the sellar, suprasellar, and parasellar region. Survival rates are high; however, tumor location and treatment ...sequalae including endocrine deficits, visual impairment, metabolic complications, cognitive and psychosocial deficits can significantly impair patient's quality of life. There is considerable controversy regarding the optimal management of craniopharyngiomas. Subtotal resection of the tumor followed by targeted irradiation to avoid further hypothalamic damage is currently indicated. Novel insights in the tumor's molecular pathology present the possibility for targeted therapy possibly decreasing the rate and severity of treatment-associated morbidity. Conclusions Craniopharyngioma should be seen as a chronic disease. To achieve optimal outcomes a multidisciplinary team of specialized neurosurgeons, neuro-radiologists, neuro-oncologists, pathologists and endocrinologists should be involved in the diagnosis, planning of the surgery, irradiation and long-term follow-up.
BACKGROUND Arteriovenous malformation (AVM) of the central nervous system (CNS) is a developmental condition that consists of a focal mass of interconnected veins and arteries. This retrospective ...study was conducted at the only tertiary center in Slovenia and included 12 pediatric cases of AVM of the CNS, diagnosed between 2000 and 2020. MATERIAL AND METHODS The patients were collected based on the ICD coding system. All available medical documentation was reviewed. RESULTS Our cohort included 6 boys and 6 girls. The mean age of patients was 9.1 years, range 1 month to 16.3 years. The estimated incidence of pediatric AVM of the CNS in Slovenia is 0.22/100 000 children per year. Ten patients had brain AVM and 2 patients had spinal AVM. At first presentation, 7 patients presented with intracerebral hemorrhage, 2 with focal neurological deficits, 1 with epilepsy, 1 with chronic headache, and 1 patient was asymptomatic. Two patients had their first hemorrhage after an already-established diagnosis of AVM. Endovascular embolization was performed in 50%, surgical resection in 33%, and conservative treatment in 17% of patients. Five patients had no residual neurological sequelae, 6 had some neurological deficits, and 1 patient died. Complete obliteration of AVM was achieved in 3 patients treated with surgery. They all had a favorable outcome, with no or mild deficit. CONCLUSIONS The study findings support that early diagnosis and management are required to prevent neurological deterioration and vessel rupture from AVM. Endovascular embolization was the most commonly used procedure. Complete obliteration was associated with good neurological outcome.
The occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.
We present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age ...15 years. Testosterone treatment was started. At age 26 the patient presented with mild headache. MRI revealed two separate pituitary adenomas along with the absence of the olfactory bulbs. Given the presence of marked hyperprolactinemia (17x upper limit of the reference range) the diagnosis prolactinoma was made and treatment with cabergoline was started which resulted in a complete biochemical response and in marked reduction of both adenomas in size. Hypogonadism persisted and testosterone replacement therapy was continued. Genetic testing of genes associated with pituitary tumors, Kallmann syndrome and idiopathic hypogonadotropic hypogonadism was negative. Mild concomitant hypercalcemia in accordance with familial hypocalciuric hypercalcemia (FHH) prompted mutation analysis of the calcium receptor (
gene which yielded a pathogenic inactivating variant.
The presence of two separate prolactinomas in a patient with KS has not yet been reported in the literature. The effect of sex hormone treatment of KS patients on the possible development of prolactinoma is unknown at present. The occurance of multiple prolactinomas in our patient suggests increased susceptibility. Although CaSR is expressed in GnRH neurons in mouse brain and CaSR deficient mice have a reduced hypothalamic GnRH neuronal population, the relevance of the
gene variant in our patient for the KS phenotype is unclear at present.
Background:
With the increasing availability and advances in brain imaging, pineal cyst lesions (PCL) are becoming a common finding in the pediatric population. In the absence of evidence-based ...guidelines, optimal diagnostic and therapeutic approaches have not been established, and there is a risk of under- or overtreatment of these patients.
Objectives:
The aim of our study was to evaluate the clinical presentation and radiological features of PCL in a cohort of pediatric patients and to identify clinical parameters more commonly associated with neoplasms in the pineal region. In addition, the prevalence of PCL in the pediatric population of Slovenia was estimated.
Methods:
In this observational, cohort study, children treated at University Children's Hospital, Ljubljana, Slovenia in the period 1997–2016 were included if PCL was found on brain imaging. We analyzed indications for referral to a neurologist, clinical signs and symptoms, radiological features, treatment and outcome.
Results:
The cohort consisted of 143 children with PCL. Pineocytoma was suspected in 31 children (21.7%). Six children underwent surgery – pineocytoma was confirmed in two cases and germinoma in one (2/3 of these children had signs of increased intracranial pressure (ICP), while PCL was benign in the remaining 4 cases. Only 2 PCL enlarged during the study period, both <2mm, none of these children developed neoplasm. Two children had PCL >20mm in diameter; both showed signs of increased ICP, one patient was found to have a germinoma of the pineal region, while the other had no neoplasm.
Conclusions:
Most PCL do not change their features during radiological follow-up and even atypical PCL are very rarely associated with a malignant neoplasm of the pineal region. A PCL larger than 20 mm and signs of increased ICP were identified as potential markers for selecting patients at risk.
Pediatric onset multiple sclerosis (POMS) in the very young is a very rare entity and presents a difficult diagnostic challenge due to overlapping signs and symptoms with other diseases. We present a ...4-year-old boy who initially presented with right-sided hemiparesis and demyelinating lesions on MRI. Follow-up MRI examinations 3 and 6 months later revealed new demyelinating lesions. Ten months after initial presentation, he presented with right-sided hemiparesis, central facial nerve palsy on the right side and new demyelinating lesions on MRI. Two clinical events and new MRI lesions on follow-up MRIs confirmed the diagnosis of POMS. He was treated with rituximab and experienced no further relapses or radiological progression during the follow-up period.
Brain aneurysms are rare in the pediatric population. The diagnosis of a brain aneurysm in a child may be difficult because of its infrequency and often subtle or nonspecific clinical presentation. ...Endovascular therapy and microsurgical treatment are increasingly used approaches in treating children, possibly contributing to favorable outcomes if patients are treated in a timely manner.
We were interested in the clinical presentation, symptoms, diagnostics, treatment, and follow-up of pediatric patients with brain aneurysms in Slovenia.
This was a retrospective review of medical documentation of children with intracranial aneurysms treated at the University Children's Hospital in Ljubljana, Slovenia, from January 1998 to December 2017.
We identified a cohort of eight children (median age: 14.9 years; range: 2.8-17.7). The estimated incidence of pediatric brain aneurysms in Slovenia is 0.12/100,000 children per year. We observed a male predominance (1.7:1). Half of the patients presented with acute onset of neurologic symptoms and three with subarachnoid hemorrhage. One of the patients had a related stroke. The presenting symptoms were tonic-clonic seizures, hemiparesis, paresthesias, speech disturbance, and cranial nerve palsy. The other half of aneurysms were identified incidentally. Five patients had anterior circulation aneurysms; the most prevalent location was the internal carotid artery. One patient was treated with surgical procedures, four patients were treated with endovascular procedures, and three patients were treated conservatively. Outcome was excellent in all patients.
Endovascular interventions and microsurgical procedures appear to be safe and effective in the treatment of brain aneurysms in the pediatric population. Asymptomatic patients with brain aneurysms need close follow-up.
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