Craniopharyngioma

What it is

From: Orphanet

A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal hypothalamus morphology · Obligate (100%)

Any structural anomaly of the hypothalamus.

Cerebral calcification · Very frequent (99-80%)

The presence of calcium deposition within the cerebrum.

Enlarged pituitary gland · Very frequent (99-80%)

An abnormally increased size of the pituitary gland.

Intracranial cystic lesion · Very frequent (99-80%)

A cystic lesion originating within the brain.

Neoplasm of the anterior pituitary · Very frequent (99-80%)

A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.

Hypopituitarism · Very frequent (99-80%)

Abnormal visual field test · Frequent (79-30%)

Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.

Central adrenal insufficiency · Frequent (79-30%)

A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.

Central diabetes insipidus · Frequent (79-30%)

A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.

Excessive daytime somnolence · Frequent (79-30%)

A state of abnormally strong desire for sleep during the daytime.

Headache · Frequent (79-30%)

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.

Hypogonadism · Frequent (79-30%)

A decreased functionality of the gonad.

Hypogonadotropic hypogonadism · Frequent (79-30%)

Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).

Increased circulating prolactin concentration · Frequent (79-30%)

The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.

Other findings in the same source

From: Orphanet

Additional reported features include Nausea and vomiting (Frequent (79-30%)); Obesity (Frequent (79-30%)); Papilledema (Frequent (79-30%)); Pituitary hypothyroidism (Frequent (79-30%)); Sleep abnormality (Frequent (79-30%)); Bitemporal hemianopia (Frequent (79-30%)); Progressive visual field defects (Frequent (79-30%)); Slow decrease in visual acuity (Frequent (79-30%)); Cerebral ischemia (Occasional (29-5%)); Delayed puberty (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 100 000; Europe; Value and class. Annual incidence: 1-9 / 1 000 000; United States; Value and class. Annual incidence: 1-9 / 1 000 000; Sweden; Value and class.

Which doctor should you see?

The suggested department for discussing Craniopharyngioma is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Craniopharyngioma. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.