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Posterior fossa arachnoid cyst masking a delayed diagnosis of hyperparathyroidism in a child
B Dhamija1, D Kombogiorgas, I Hussain
1Department of Neurosurgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
Insights
Primary hyperparathyroidism is rare in children and often diagnosed late. Early consideration in pediatric patients with nonspecific symptoms can prevent severe complications from prolonged hypercalcemia.
Area of Science:
- Pediatric Endocrinology
- Rare Diseases
- Calcium Metabolism
Background:
- Primary hyperparathyroidism is uncommon in childhood, frequently leading to delayed diagnosis.
- Symptoms are often nonspecific, including polyuria, fatigue, weight loss, and gastrointestinal issues.
- The condition typically affects individuals in their fourth decade or later.
Purpose of the Study:
- To highlight the importance of considering primary hyperparathyroidism in the differential diagnosis of pediatric patients.
- To emphasize the need for prompt diagnosis to prevent severe complications.
Main Methods:
- Case report of an 11-year-old girl with a 3-year history of nonspecific symptoms.
- Initial management focused on a posterior fossa arachnoid cyst.
- Subsequent biochemical and endocrine assessment revealed primary hyperparathyroidism.
Main Results:
- The patient presented with headaches, visual disturbances, and emotional lability, initially attributed to an arachnoid cyst.
- Recurrent loss of consciousness, dizziness, and nausea prompted further investigation.
- Biochemical analysis confirmed primary hyperparathyroidism.
Conclusions:
- Primary hyperparathyroidism should be included in the differential diagnosis for children with nonspecific neurological, gastrointestinal, or renal symptoms.
- Early diagnosis is crucial to avoid severe complications associated with prolonged hypercalcemia and end-organ damage.
Abstract:
Background. Primary hyperparathyroidism in childhood is a very rare entity, often being diagnosed late after the onset of its presenting symptoms. It most commonly affects patients in their fourth decade of life and beyond. The inclusion of primary hyperparathyroidism in the differential diagnosis is necessary when evaluating patients presenting with nonspecific symptoms such as polyuria, fatigue, weight loss, abdominal pain, nausea, and vomiting. Methods. We report the case of an eleven-year-old girl presenting with three years history of headaches, visual disturbance, along with episodes of emotional lability. Neuroimaging confirmed a large posterior fossa arachnoid cyst. It was decided to manage this lesion conservatively with surveillance. Only after further hospital admissions with recurrent loss of consciousness, dizziness, and nausea to add to her already existing symptoms, a full biochemical and endocrine assessment was performed to look for more specific causes for her presentation. These pointed to a diagnosis of primary hyperparathyroidism. Conclusions. The inclusion of primary hyperparathyroidism in the differential diagnosis should be considered when evaluating paediatric patients presenting with nonspecific (neurological, gastrointestinal, and renal) symptoms in order to establish a prompt diagnosis of the disorder and to avoid severe complications of prolonged hypercalcaemia and end-organ damage.
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