History
Symptoms of craniopharyngioma can be present for years before diagnosis. Craniopharyngiomas produce symptoms by compression of adjacent neural structures most importantly the optic pathways and hypothalamus and pituitary stalk. They can become quite large, obstructing cerebral spinal fluid (CSF) pathways (i.e. third ventricle or the foramen of Monro) and causing hydrocephalus and increased intracranial pressure that leads to headaches, nausea, and projectile vomiting.
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Headache: Headaches occur in 60-80% of children with craniopharyngioma at presentation and are usually a symptom of increased intracranial pressure or hydrocephalus.
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Vomiting: Classic projectile vomiting (frequently without nausea) accompanies headaches as a sign of increased intracranial pressure and is reported in 35-70% of children with these tumors at presentation.
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Vision loss
- Children are frequently unaware of significant vision loss; nevertheless, this symptom reportedly occurs in 20-60% of pediatric patients with craniopharyngioma at presentation.
Anterior extension to the optic chiasm can result in a classic bitemporal hemianopsia, unilateral temporal hemianopsia, papilledema, or unilateral/bilateral decrease in visual acuity. Classically, vision loss starts with a superior temporal field cut. However, the eccentric growth of these tumors can result in varying patterns and severity of vision loss, including decreased acuity, diplopia, blurred vision, and subjective visual field deficits. Children are frequently inattentive to visual loss, and formal testing may be required.
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Endocrine dysfunction: This results from direct compression or destruction of the hypothalamus and pituitary stalk. At the time of diagnosis, 40-85% of patients present with at least one hormonal deficit. [11]
See the list below:
- Growth hormone deficiency is the most common deficit in children occurring in 35-95%. This can result in short stature. One series reported that growth failure preceded diagnosis of craniopharyngioma by a mean of 4 years.
- Gonadotropin deficiency (LH and FSH) is the most common deficit in adolescents occurring in up to 40% of patients resulting in delayed puberty, erectile dysfunction, and amenorrhea.
- Secondary hypothyroidism (TSH deficiency) is present in 21-42% of cases and include weight gain, lethargy, fatigue, cold intolerance, dry skin, dry brittle hair, slow teething, anorexia, large tongue, deep voice, and myxedema.
- Secondary adrenal insufficiency (ACTH deficiency) occurs in 25% of patients and can present with fatigue, myalgias, arthralgias, weakness, and hypoglycemia due to glucocorticoid deficiency.
- Diabetes insipidus (ADH deficiency) occurs in 17-28% of patients and may present with polydipsia and polyuria.
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Diencephalic syndrome: This term is used to describe emaciated hyperactive children who occasionally present with unusual eye movements and even blindness. These symptoms result from extrinsic compression of the hypothalamus. Conversely, damage to or invasion of the ventromedial hypothalamus can result in a dysregulation of energy balance and resultant obesity upon presentation.
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Mental status changes occur in as many as 25% of adults, but are rare in children. Temporal lobe involvement can rarely result in seizures.
Physical
Focus physical examination on the identification of neurologic and endocrine derangements.
Neurologic Examination
See the list below:
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Enlarging head circumference: this finding is highly suggestive of an intracranial mass or hydrocephalus, particularly when paired with papilledema.
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Papilledema: occurs in 25-40% of children and results from increased intracranial pressure.
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Visual field deficits
- Formal testing is generally required to identify visual field deficits in children, which likely explains the wide reported range (10-95%) of patients with craniopharyngioma.
- Given the typical proximity of the tumor to the optic nerves, optic chiasm, and anterior optic tracts, the common discovery of visual fields defects at presentation is not surprising.
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See-saw nystagmus: although often referred to as a classic physical examination finding among children with parasellar tumors, the literature reports an incidence rate of less than 10%.
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Cranial nerve palsy: with the notable exception of the optic nerves, cranial nerve palsies are relatively rare, with a reported incidence rate of 8% for children at time of diagnosis.
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Ataxia: this is another sign of increased intracranial pressure or hydrocephalus, which is present in 5-10% of patients at initial evaluation.
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Seizure: rarely described as a presenting feature
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Focal motor weakness: rarely described as a presenting feature
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Intellectual disturbance or somnolence: most likely to be due to hypothyroidism or hydrocephalus
Endocrinologic Evaluation
See the list below:
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Short stature or growth retardation is the most common endocrine derangement associated with this tumor. Growth retardation (as documented on formal pediatric growth charts) is reported in 86% of patients with craniopharyngioma at presentation.
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Obesity and weight gain is the third most common endocrine abnormality associated with craniopharyngiomas. Hypothyroidism, growth hormone deficiency, and direct hypothalamic injury can contribute to obesity and weight gain. Obesity and weight gain are reported in 20% of presenting patients.
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Hypothyroidism can manifest as weight gain, dry skin, brittle hair, and bradycardia.
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Precocious or delayed puberty is the fourth most common endocrine derangement associated with craniopharyngiomas and is present at diagnosis in 10-15% of patients. This is the most common presenting sign in adolescents.
Causes
No known environmental or infectious causes predispose to the development of craniopharyngiomas.
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This MRI sequence was obtained following the intravenous administration of gadolinium contrast. Observe the relatively homogeneous and cystic mass arising from the sella turcica and extending superiorly and posteriorly with compression of normal regional structures. Note that the lesion is sharply demarcated and smoothly contoured. This fluid-filled mass is consistent with a typical craniopharyngioma.
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This axial CT scan image demonstrates a cystic lesion in the typical location of a craniopharyngioma. Although most of the lesion is fluid filled, a rim of enhancing soft tissue is observed following the administration of intravenous contrast.
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Non-contrast Head CT with peripheral calcifications around a bi-lobed craniopharyngioma.
