Case 1: An unusual cause of headaches and priapism in a teenager

A previously healthy 15-year-old boy presented to the paediatric emergency department after suffering from three weeks of headache, two weeks of neck pain and one week of intermittent blurry vision. The headache was described as a throbbing, diffuse pain, which was worse in the mornings, but did not wake the patient from his sleep. The headache was not associated with nausea or vomiting, and there was no fever. In the three months leading up to his presentation, the patient had two episodes of priapism that resolved, and he was treated three times with metronidazole for presumed balanitis. He also had lower back and neck pain that was thought to be muscle-related. There was no known family history of headaches or migraines. On examination, his initial vital signs showed a normal blood pressure of 106/61 mmHg, a heart rate of 57 beats/min, and a temperature of 34.8°C. He was pale, alert and in no acute distress, with a Glasgow Coma Scale rating of 15. The patient had normal respiratory, cardiovascular, musculoskeletal and abdominal examinations (although the spleen was subsequently found to be mildly enlarged on abdominal ultrasound), and had no bruises or petechiae. His neurological examination showed that his sensations, motor functions, cranial nerves, cerebellar function and reflexes were normal. A fundoscopy revealed papilledema bilaterally; his visual acuity was 20/30 bilaterally. Initial investigations included an unenhanced computed tomography scan of the head, which was within normal limits. A lumbar puncture was performed and there was an elevated opening pressure of 48 cm of water. A diagnosis of idiopathic intracranial hypertension was made, and he was discharged on acetazolamide. The patient returned to the emergency department five days following his initial visit, with a complaint of early morning headache with associated blurry vision. His physical examination was unchanged. His magnetic resonance imaging and magnetic resonance venography scans were normal. The patient's complete blood count revealed an elevated white blood cell count of 480×109/L, with a differential showing: lymphocytes 8×109/L, monocytes 0×109/L, eosinophils 1.6×109/L, polymorphs 27.2×109/L, bands 129.60×109/L, metamyelocytes 68.8×109/L, myelo-cytes 193.6×109/L, promyelocytes 44.6×109/L and immature cells 9.6×109/L, as well as a decreased hemoglobin level (94 g/L) and platelet count (130×109/L). A diagnosis of hyperleukocytosis secondary to leukemia was subsequently made. Based on the differential blood count, a diagnosis of chronic myelogenous leukemia (CML) was suspected. This was confirmed by cytogenetic analysis of blood and bone marrow cells. Karyotype and a specific fluorescence in situ hybridization assay showed the presence of the Philadelphia chromosome arising from the chromosomal translocation t(9;22)(q34;q11). The BCR-ABL fusion transcript associated with CML (subtype p210) was demonstrated by reverse transcriptase polymerase chain reaction. A bone marrow aspirate was consistent with CML in chronic phase. To reduce the white blood cell (WBC) count, the patient underwent repeated leukopheresis and was started on hydroxyurea. His brother was human leukocyte antigen-identical and, thus, he underwent a matched-related donor bone marrow transplant four months after the initial diagnosis; imatinib (Gleevec, Novartis Pharmaceuticals, USA) therapy was not used. He had no apparent long-term sequelae of the initial presentation of idiopathic intracranial hypertension (IIH). IIH, previously known as pseudotumor cerebri and benign intracranial hypertension, is a neurological disorder characterized by increased intracranial pressure (ICP) and normal cerebrospinal fluid (CSF) composition, without enlarged ventricles or a space-occupying lesion (1). Headache with or without vomiting is typically the chief complaint, and visual failure is the main long-term complication (2). Currently, IIH can only be diagnosed with certain criteria present – increased ICP symptoms and signs of papilledema, elevated ICP on lumbar puncture, unremarkable CSF composition, lack of evidence on imaging for increased ICP, and lack of cause for increased ICP on history and physical examinations (1). In following these diagnostic criteria, a few conditions, such as cerebral venous thrombosis, gliomatosis cerebri and leptomeningeal infiltration by a chronic neoplastic or infectious process, have the potential to escape detection with brain imaging and CSF analysis until later in their course (1). In children, common secondary causes of IIH are bacterial meningitis, tetracycline (including minocycline), hypervitaminosis A (including retinoid use) and cerebral venous sinus thrombosis (1). The pathophysiology of IIH is not fully understood, but it does include increased venous sinus pressure, decreased CSF absorption, increased CSF secretion, increased blood volume and brain edema. Early recognition and management may help to alleviate symptoms and preserve vision (2). In the assessment of patients presenting with signs of increased intracranial hypertension, detailed history and physical examinations are essential. Head imaging, including magnetic resonance imaging and magnetic resonance venography scans, are needed to look for space-occupying lesions and venous sinus thrombosis, respectively. Lumbar puncture should be performed following imaging to assess opening pressure, cell count and culture of the CSF itself. Visual field and visual acuity assessments are also important in making the diagnosis (1). CML is a myeloproliferative disorder caused by clonal expansion of abnormal stem cells. CML is characterized by thrombocytosis, granulocytosis, circulating early myeloid forms and often basophilia. There is the associated translocation t(9;22), known as the Philadelphia (Ph) chromosome t(9;22)(q34;q11), which is believed to be central to the pathophysiology of CML and is indicative of CML (3). This translocation results in the expression of the BCR-ABL fusion protein, which functions as a constitutively active tyrosine kinase in the leukemic cells. Imatinib is a novel therapeutic agent that specifically inhibits leukemia-associated BCR-ABL protein kinase, and has become the paradigm of targeted leukemia therapy (4). Because this patient had a human leukocyte antigen-identical sibling, this agent was not used, but rather hydrox-yurea was used to lower the WBC count before proceeding to transplant. Our patient presented with IIH and was found to have CML. Intracranial hypertension is not a common presentation of childhood leukemias. An Ovid MEDLINE search found only one other report (5) of CML first presenting with pseudotumor cerebri symptoms, and this occurred in a 19-year-old patient. There are reports of pseudotumor cere-bri in acute promyelocytic leukemia, both at presentation and secondary to therapy (2). In the present case, the IIH was a prodromal symptom of CML. The main theory behind the increase in ICP is poor absorption of CSF into patent sinuses. This poor absorption may be the result of an increased resistance to outflow secondary to the very high WBC count, which was present in our patient and in the other reported case (4). The high WBC count causes sludging in the venous systems and does not allow the ventricles to drain properly and completely, leading to a build-up of CSF in the ventricles and increased ICP. This was supported by the resolution of the patient's headaches approximately one week into the hospital admission, following an overall decline in the patient's WBC count. Our patient also presented with priapism twice before presenting with headaches. There were previous case reports (6) in which both children and adults with leukemia presented with priaprism. The majority of these cases occurred as the initial presentation of CML. The proposed mechanism is due to the large blast cell size and the propensity of these cells to attach together, causing blockages in blood vessels. Other conditions to consider with the presentation of priapism include, most commonly, sickle cell anemia, neurological disease, trauma, medication usage and malignancy. It is important with the presentation of priapism to find an underlying cause, give appropriate analgesia and reduce it as soon as possible (6). Based on the present case and the mentioned case reports, in a patient presenting with intracranial hypertension and/or priapism of unknown etiology, a diagnosis of leukemia needs to be investigated. CML generally presents with nonspecific symptoms and signs such as fatigue, bone and muscle pains, malaise, easy bruising, weight loss and anorexia (3). Intracranial hypertension and/or priapism can be part of the initial presentation of leukemia. In a patient presenting with intracranial hypertension or priapism with no identifiable cause, it is reasonable and warranted to perform a complete blood count to investigate for leukemia.

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