Rare Nephrology News

Disease Profile

Craniopharyngioma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

D44.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Rathke's pouch tumor; Craniopharyngeal duct tumor; Adamantinoma;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases;

Summary

Craniopharyngioma is a slow-growing, non-cancerous brain tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain which produces several important hormones) and the hypothalamus (an endocrine organ which controls the release of hormones by the pituitary gland).[1][2][3] This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected.[1] Although craniopharyngiomas are not cancerous, they may grow and press on nearby parts of the brain, causing symptoms including hormonal changes, vision changes, slow growth, headaches, nausea and vomiting, loss of balance, hearing loss, and changes in mood or behavior.[2] The cause of these tumors is not well understood; however, researchers suspect that they begin to form during the early stages of embryo development in pregnancy (embryogenesis) and may result from metaplasia (abnormal transformation of cells).[2][4] Treatment for craniopharyngioma varies and may involve surgery to remove the tumor, radiation therapy, chemotherapy, biologic therapy, and/or hormone therapy to replace various hormones no longer produced or secreted due to the tumor or its treatment.[2][5]

 

Symptoms

Craniopharyngioma may cause symptoms by increasing the pressure on the brain (intracranial pressure), disrupting the function of the pituitary gland, and/or damaging the optic nerve. Symptoms vary from person to person and depend on the specific location of the tumor and its relationship to other adjacent structures.[1][4][6][2]

  • Increased pressure on the brain may cause hydrocephalus, headache, nausea, vomiting (especially in the morning), and difficulty with balance.
  • Damage to the pituitary gland may cause hormone imbalances that can lead to many signs and symptoms such as:
  • deficiency of growth hormone, gonadotropin, thyroid stimulating hormone, and/or adrenocorticotropic hormone
  • excessive thirst and urination (diabetes insipidus)
  • sleep disturbances
  • delayed puberty and stunted growth
  • weight gain or obesity, fatigue, cold intolerance, constipation, decreased mental function, behavioral symptoms (hypothyroidism symptoms)
  • adrenal failure symptoms (heart arrhythmias, confusion, lethargy, orthostatic hypotension, low blood sugar)
  • changes in personality or mood (such as feeling depressed or having anxiety)
  • Damage to the optic nerve may result in vision problems.[1][4][6][7]

Symptoms are often permanent, and may be worse after surgery to remove the tumor.[1] People with craniopharyngioma often have impaired psychosocial health in addition to physical health, both of which contribute to reduced quality of life.[7]

About 80% of adults with this tumor complain of decreased sexual drive, and almost 90% of men complain of impotence, while most women have absent menses (amenorrhea).[4]

Because craniopharyngioma typically is a slow-growing tumor, symptoms frequently develop very slowly. The time interval between the onset of symptoms and diagnosis usually ranges from 1-2 years.[4]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Abnormal hypothalamus morphology
Abnormal shape of hypothalamus
0012286
80%-99% of people have these symptoms
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Enlarged pituitary gland
0012505
Intracranial cystic lesion
0010576
Neoplasm of the anterior pituitary
0011750
30%-79% of people have these symptoms
Abnormal visual field test
0030588
Bitemporal hemianopia
0030521
Central adrenal insufficiency
0011734
Central diabetes insipidus
0000863
Excessive daytime somnolence
Excessive daytime sleepiness
More than typical sleepiness during day

[ more ]

0001262
Headache
Headaches
0002315
Hypogonadotropic hypogonadism
0000044
Increased circulating prolactin concentration
0000870
Nausea and vomiting
0002017
Obesity
Having too much body fat
0001513
Papilledema
0001085
Pituitary hypothyroidism
Low thyroid gland function due to abnormal pituitary gland
0008245
Progressive visual field defects
0007987
Slow decrease in visual acuity
Slow decrease in sharpness of vision
0007924
5%-29% of people have these symptoms
Cerebral ischemia
Disruption of blood oxygen supply to brain
0002637
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Increased intracranial pressure
Rise in pressure inside skull
0002516
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

0002659
Optic atrophy
0000648
Polyphagia
Voracious appetite
0002591
Proportionate short stature
0003508
Sleep apnea
Pauses in breathing while sleeping
0010535
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978
1%-4% of people have these symptoms
Abnormality of the frontal bone
Abnormality of the bone of the forehead
0430000
Abnormality of the nasal bone
0010939
Coma
0001259
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Myocardial infarction
Heart attack
0001658
Postnatal growth retardation
Growth delay as children
0008897
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Seizure
0001250
Sudden loss of visual acuity
0001117
Vertigo
Dizzy spell
0002321

Cause

The cause of these tumors is not well understood; however, researchers suspect that they begin during the early stages of development in pregnancy (embryogenesis) and may result from metaplasia (abnormal transformation of cells). Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch, (an outpouch of the primitive oral cavity that forms the anterior part of the pituitary gland). Embryonic cells (early fetal cells) from abnormal development of the craniopharyngeal duct or anterior pituitary gland may give rise to a craniopharyngioma. These tumors are closely related to another cystic mass occasionally seen in the pituitary called Rathkes cleft cyst.[3][4][8]

Treatment

Treatment for craniopharyngiomas has been controversial. Two main management options have primarily been used: attempt at complete removal (gross total resection), or partial removal (partial resection) followed by radiation therapy to treat residual disease.[6] Advances in techniques used in neurosurgery have made total resection possible in more cases, but improvements in radiation therapy techniques have also made this option more effective and safe. There currently is no firm consensus of opinion regarding the best treatment option.[6] Unfortunately, even following treatment, many people experience endocrine, vascular, neurologic, and/or visual complications. Psychological, social, and emotional problems are also common.[6][9] Panhypopituitarism (when the pituitary gland does not make most or all hormones) and hypothalamic dysfunction are prevalent and are treated with hormone therapy to replace various pituitary and hypothalamic hormone deficiencies.[5] Early studies suggest that oxytocin (a less understood hormone often not replaced) may benefit some people with certain symptoms of hypothalamic dysfunction such as obesity and behavioral issues; however, additional research on larger groups of people is needed to determine its role in therapy.[9][5][10]

An experienced multidisciplinary team of specialists (neurosurgeon, radiation oncologist, neurooncologist, endocrinologistophthalmologist) is essential for the best treatment of both pediatric and adult patients with craniopharyngiomas.[6]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Craniopharyngioma. Click on the link to view a sample search on this topic.

References

  1. Craniopharyngioma. MedlinePlus. 7/30/2014; https://www.nlm.nih.gov/medlineplus/ency/article/000345.htm.
  2. General Information About Childhood Craniopharyngioma. National Cancer Institute (NCI). June 10, 2016; https://www.cancer.gov/types/brain/patient/child-cranio-treatment-pdq.
  3. Garnett MR, Puget S, Grill J & Sainte-Rose C. Craniopharyngioma. Orphanet. 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54595.
  4. George C Bobustuc, George I Jallo, Franco DeMonte, Gregory N Fuller, Morris D Groves, Lee S Hwang. Craniopharyngioma. Medscape. Oct 27, 2014; https://emedicine.medscape.com/article/1157758.
  5. Hsu EA, Miller JL, Perez FA, Roth CL. Oxytocin and Naltrexone Successfully Treat Hypothalamic Obesity in a Boy Post-Craniopharyngioma Resection. J Clin Endocrinol Metab. February 1, 2018; 103(2):370-375. https://www.ncbi.nlm.nih.gov/pubmed/29220529.
  6. Harsh GR, Recht LD & Marcus KJ. Craniopharyngioma. UpToDate. Waltham, MA: UpToDate; October, 2017; https://www.uptodate.com/contents/craniopharyngioma.
  7. Roemmler-Zehrer J, Geigenberger V, Störmann S. Specific behaviour, mood and personality traits may contribute to obesity in patients with craniopharyngioma. Clin Endocrinol (Oxf). January, 2015; 82(1):106-114. https://www.ncbi.nlm.nih.gov/pubmed/24923438.
  8. Craniopharyngioma. Pituitary Network Association. 2013; https://pituitary.org/knowledge-base/disorders/craniopharyngioma. Accessed 8/5/2016.
  9. Hoffmann A, Özyurt J, Lohle K, Reichel J, Thiel CM, Müller HL. First experiences with neuropsychological effects of oxytocin administration in childhood-onset craniopharyngioma.. Endocrine. April, 2017; 56(1):175-185. https://www.ncbi.nlm.nih.gov/pubmed/28213803.
  10. Daubenbüchel AM, Hoffmann A, Eveslage M, et al. Oxytocin in survivors of childhood-onset craniopharyngioma. Endocrine. November, 2016; 54(2):524-531. https://www.ncbi.nlm.nih.gov/pubmed/27585663.

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