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According to a Dutch source juvenile pilocytic astrocytoma occurs at a rate of 2 in 100,000 people. Most affected are children ages 5–14 years. According to the National Cancer Institute more than 80% of astrocytomas located in the cerebellum are low grade (pilocytic grade I) and often cystic; most of the remainder are diffuse grade II astrocytomas.
Tumors of the optic pathway account for 3.6-6% of pediatric brain tumors, 60% of which are juvenile pilocytic astrocytomas. Astrocytomas account for 50% of pediatric primary central nervous system tumors. About 80-85% of cerebellar astrocytomas are juvenile pilocytic astrocytomas.
Recent genetic studies of pilocytic astrocytomas show that some sporadic cases have gain in chromosome 7q34 involving the BRAF locus.
Lhermitte–Duclos disease is a rare entity; approximately 222 cases of LDD have been reported in medical literature. Symptoms of the disease most commonly manifest in the third and fourth decades of life, although it may onset at any age. Men and women are equally affected, and there is not any apparent geographical pattern.
Lhermitte–Duclos disease (LDD) (), also called dysplastic gangliocytoma of the cerebellum, is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. It is often associated with Cowden syndrome. It was described by Jacques Jean Lhermitte and P. Duclos in 1920.
Grade I pilocytic astrocytoma and cerebellar gliomas are not associated with recurrence after complete resection. Grade II astrocytomas and cerebellar gliomas are more likely to recur after surgical removal. Pilomyxoid astrocytomas may behave more aggressively than classic pilocytic astrocytoma.
After complete surgical removal, in cases of progressive/recurrent disease or when maximal surgical removal has been achieved, chemotherapy and/or radiation therapy will be considered by the medical team.
The tumor is rare, affecting adults in the 4th decade most commonly. Patients are usually younger than those who present with a lipoma. There is a slight male predominance. Hibernoma are most commonly identified in the subcutaneous and muscle tissue of the head and neck region (shoulders, neck, scapular), followed by thigh, back, chest, abdomen, and arms. In rare cases hibernoma may arise in bone tissue, however it is an incidental finding.
NPCA is a syndrome and can have diverse causes. It has a genetic basis and inheritance is considered to be autosomal recessive. However, autosomal dominant variety has also been reported. There may be familial balanced translocation t(8;20)(p22;q13) involved.
In most cases, between the age of 2 and 4 oculomotor signals are present. Between the age of 2 and 8, telangiectasias appears. Usually by the age of 10 the child needs a wheel chair. Individuals with autosomal recessive cerebellum ataxia usually survive till their 20s; in some cases individuals have survived till their 40s or 50s.
The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature. Some cerebellar hypoplasia resulting from congenital brain abnormalities/malformations are not progressive. Progressive cerebellar hypoplasia is known for having poor prognosis, but in cases where this disorder is static, prognosis is better.
There is no known prevention of spinocerebellar ataxia. Those who are believed to be at risk can have genetic sequencing of known SCA loci performed to confirm inheritance of the disorder.
Complete surgical excision is the treatment of choice, associated with an excellent long term clinical outcome.
In terms of frequency, is estimated at 2 per 100,000, it has identified in different regions of the world. Some clusters of certain types of autosomal dominant cerebellar ataxia reach a prevalence of 5 per 100,000.
Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia.
Acute cerebellar ataxia is the most common cause of unsteady gait in children. The condition is rare in children older than ten years of age. Most commonly acute cerebellar ataxia affects children between age 2 and 7 years.
Cerebellar hypoplasia is characterized by reduced cerebellar volume even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorder of cerebellar maldevelopment presenting as early onset non progressive ataxia, hypotonia, and motor learning disability. Various causes has been incriminated like hereditary, metabolic, toxic and viral agents. First reported by Crouzon in 1929. In 1940 an unclaimed body came for dissection in London Hospital and was discovered to have no cerebellum. This unique case was appropriately named "human brain without a cerebellum" and was used every year in the Department of Anatomy at Cambridge University in a neuroscience course for medical students.
Most treatments involve some combination of surgery and chemotherapy. Treatment with cisplatin, etoposide, and bleomycin has been described.
Before modern chemotherapy, this type of neoplasm was highly lethal, but the prognosis has significantly improved since.
When endodermal sinus tumors are treated promptly with surgery and chemotherapy, fatal outcomes are exceedingly rare.
Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum controls smooth movement, and when it does not develop, the rest of the brain must compensate, which it cannot do completely. The condition is not fatal on its own, but people born without a cerebellum experience severe developmental delays, language deficits, and neurological abnormalities. As children with cerebellar agenesis get older, their movements usually improve. It can co-exist with other severe malformations of the central nervous system, like anencephaly, holoprosencephaly, and microencephaly.
The condition was first reported in 1831. 10 cases had been reported as of 1998. Agenesis of one half or another part of the cerebellum is more common than complete agenesis.
Cerebellar agenesis can be caused by mutations in the PTF1A gene.
A germinoma is a type of germ cell tumor, which is not differentiated upon examination. It may be benign or malignant.
A solid pseudopapillary tumour (also known as solid pseudopapillary neoplasm or, more formally, solid pseudopapillary tumour/neoplasm of the pancreas) is a low-grade malignant neoplasm of the pancreas of architecture that typically afflicts young women.
The prevalence of SCA6 varies by culture. In Germany, SCA6 accounts for 10-25% of all autosomal dominant cases of SCA (SCA itself having a prevalence of 1 in 100,000). This prevalence in lower in Japan, however, where SCA6 accounts for only ~6% of spinocerebellar ataxias. In Australia, SCA6 accounts for 30% of spinocerebellar ataxia cases while 11% in the Dutch.
Endodermal sinus tumor (EST), also known as yolk sac tumor (YST), is a member of the germ cell tumor group of cancers. It is the most common testicular tumor in children under 3, and is also known as infantile embryonal carcinoma. This age group has a very good prognosis. In contrast to the pure form typical of infants, adult endodermal sinus tumors are often found in combination with other kinds of germ cell tumor, particularly teratoma and embryonal carcinoma. While pure teratoma is usually benign, endodermal sinus tumor is malignant.
An muscle tissue neoplasm is a neoplasm derived from muscle.
An example is myoma.
Treatment of Ramsay Hunt Syndrome Type 1 is specific to individual symptoms. Myoclonus and seizures may be treated with drugs like valproate.
Some have described this condition as difficult to characterize.
Dysgerminoma is the most common type of malignant germ cell ovarian cancer. Dysgerminoma usually occurs in adolescence and early adult life; about 5% occur in pre-pubertal children. Dysgerminoma is extremely rare after age 50. Dysgerminoma occurs in both ovaries in 10% of patients and, in a further 10%, there is microscopic tumor in the other ovary.
Seminoma is the second most common testicular cancer; the most common is mixed, which may contain seminoma.
Abnormal gonads (due to gonadal dysgenesis and androgen insensitivity syndrome) have a high risk of developing a dysgerminoma. Most dysgerminomas are associated with elevated serum lactic dehydrogenase (LDH), which is sometimes used as a tumor marker.
Metastases are most often present in the lymph nodes.
The cause of Primrose syndrome is currently unknown. This condition is extremely rare and seems to spontaneously occur, regardless of family history.
In the case studied by Dalai et al. in 2010, it was found that an abnormally high amount of calcitonin, a hormone secreted by the thyroid gland to stabilize blood calcium levels, was present in the blood serum. This suggests that the thyroid gland is releasing an abnormal amount of calcitonin, resulting in the disruption of calcium level homeostasis. No molecular cause was found, but an expanded microarray analysis of the patient found a 225.5 kb deletion on chromosome 11p between rs12275693 and rs1442927. Whether or not this deletion is related to the syndrome or is a harmless mutation is unknown. The deletion was not present in the patient's mother's DNA sample, but the father's DNA was unavailable.
There is no known prevention of spinocerebellar ataxia. Those who are believed to be at risk can have genetic sequencing of known SCA loci performed to confirm inheritance of the disorder.