Intracerebral Haemorrhage: A Rare Presentation of Phaeochromocytoma.

Phaeochromocytoma is a rare childhood adrenal medullary catecholamine secreting tumour, arising from the chromaffin cells of the sympathetic origin derived from the neural crest cells. Only a few cases have been reported in the literature so far. We report an uncommon presentation in a 5-year-old boy with intracerebral haemorrhage, hemiplegia, and paroxysmal hypertension. Magnetic resonance imaging of the brain showed chronic and acute hemorrhagic infarcts in the left cerebral hemisphere and no vascular anomaly seen on cerebral venogram. Computed tomography scan abdomen showed a mass in the lesser sac and urinary catecholamines were elevated. The patient underwent exploratory laparotomy and the mass was excised in toto. Histopathological examination (HPE) confirmed the diagnosis. This case illustrates the need for keeping in mind atypical presentations of phaeochromocytoma especially in children; as it is a treatable cause of hypertension and early diagnosis with adequate management can prevent morbidity and fatal outcomes. Copyright:

INTRODUCTION

Paediatric hemorrhagic strokes are usually caused by arteriovenous malformations, aneurysms, cavernous angiomas, moyamoya disease, bleeding diathesis, rarely by infections, and inflammatory vasculitis.[1]

Phaeochromocytoma is truly a “disease with a thousand faces.”[2] Among the wide spectrum of presentations, a potentially crippling, fatal one includes intracerebral haemorrhage (ICH) in the events of phaeochromocytoma crisis. Although it has a prevalence of one or two in a million, it rarely presents with ICH; about 11 cases reported so far, and two cases only in the pediatric population.[2] We report first such case in the Indian pediatric population, in a 5-year-old boy, presenting with right hemiplegia.

CASE REPORT

A 5-year-old boy, with no history of trauma, presented to the hospital with generalized tonic–clonic seizures, was diagnosed with status epilepticus. Other vital parameters including blood pressure (BP), were normal. Magnetic resonance imaging (MRI) brain showed chronic infarcts. He was evaluated and discharged on antiepileptic medications and had no similar episode during the stay. He then presented to an emergency again, a week later with fever, signs of stroke; right hemiplegia for 2 days. On examination, the right upper and lower limb power was 1/5, extensor plantar response, and deviation of angle of mouth to left. His BP recordings were normal at presentation. Blood investigations including total counts, renal, and liver function tests done were within normal limits.

MRI brain showed acute hemorrhagic infarcts in the left cerebral hemisphere (involving left frontal, parietal lobes, caudate, internal and external capsule, lentiform nucleus, insular cortex, and white matter of parietal lobe adjacent to the occipital horn of left lateral ventricle).

In the due course of hospitalization, paroxysmal hypertensive episodes with a maximum BP fluctuation going up to 160/110 mm Hg were observed.

Ultrasound abdomen done to evaluate renal causes for hypertension revealed a small heterogeneous mass in the lesser sac. Subsequently, contrast-enhanced computed tomography (CECT) abdomen confirmed a well-circumscribed heterogeneously enhancing 3.2 cm × 3.5 cm × 3.8 cm lesion in the region of the lesser sac; abutting posterior wall of the body of stomach anteriorly, the tail of the pancreas superiorly, the distal body of pancreas medially, close to the splenic flexure laterally, compressing left renal artery and vein posteromedially and the splenic vein [Figure 1].

Figure 1

Axial view, contrast-enhanced computed tomography abdomen and pelvis showing 3.2 cm × 3.5 cm × 3.8 cm mass lesion in the lesser sac near the upper pole of the left kidney

Based on clinical features and investigations, neuroblastoma was suspected. However, serum homovanillic acid (HVA), and vanillylmandelic acid (VMA) were normal.

A Tc 99 Hynictoc scan was inconclusive, showed no radiotracer enhancement. Twenty-four hours urine metanephrine: 367 mcg/L, normetanephrine: 983 mcg/L, were elevated. Due to hemorrhagic infarct, aggressive BP reduction was avoided. The patient was optimized with calcium channel blockers (CCB's) and mannitol enough to undergo emergency surgery to prevent further end-organ damage. Exploratory laparotomy showed a 4 cm × 3 cm capsulated mass superomedial to the left kidney in retroperitoneum, with engorged left adrenal vein splaying over the medial aspect of the tumor, giving branches to it [Figure 2] and was excised in toto. Despite minimal tumor handling, BP escalation was observed intraoperatively which was managed with labetalol infusion and gradually tapered postoperatively. CCB's were added to maintain a stable BP and continued on discharge. Histopathology examination confirmed phaeochromocytoma with immunohistochemistry positive for chromogranin, synaptophysin, and inhibin; negative for S100.

Figure 2

Intraoperative picture showing well-encapsulated tumor with branches of adrenal vein splaying over it

DISCUSSION

Phaeochromocytoma is a great mimic owing to its varied presentations, can be often missed clinically. It is a one in a million disease, its occurrence is even rare in the pediatric population especially with ICH and hypertensive crisis; as emphasized by Chuang et al.[234]

Phaeochromocytoma must be kept as a differential diagnosis in such scenarios with the absence of other causes of hemorrhage on MRI and persisting signs which do not fit into the usual diagnosis.

The symptoms and signs of phaeochromocytoma are due to catecholamine excess, the paroxysmal release of which can be life-threatening.[35] In this child, it appears that ICH was caused by the systemic hypertensive episode since no evidence of cerebral venous or arterial cause was found on the MRI study of the brain.

Neuroblastoma was considered initially, but serum HVA, and VMA were normal.

It is imperative to note that, a single method here, was not diagnostic, even the Tc99 Hynictoc scan showed no radiotracer enhancement, and the mass incidentally found on ultrasound abdomen was confirmed on CECT. Further, meta-iodobenzylguanidine scan was planned but due to immediate unavailability and the child's fluctuating BP despite the best of antihypertensive measures, we decided to proceed with surgical excision, for the fear of further end-organ damages.

High clinical suspicion of phaeochromocytoma and elevated urinary catecholamine levels led us to the diagnosis. An appropriate combination of careful clinical observation with biochemical tests and imaging modalities helps us diagnose it early.

The child presented a week back with status epilepticus and on MRI chronic infarcts were noted, electroencephalography done at that time was suggestive of mild diffuse encephalopathy. The occurrence of seizures in this child in the recent past may be related to high catecholamine levels itself or hypertensive encephalopathy as also illustrated by Li and Zhang in 2019.[6]

Luiz et al. in 2013 reported a 12-year-old boy with hemiparesis in malignant paraganglioma and Chuang et al. in 2002 reported another 6-year-old child with right hemiparesis and focal seizures due to phaeochromocytoma but no such neurological presentations in children have been reported from the Indian literature till date.[247]

The child is on continuous follow-up and at 7 months, articulation, both right upper and lower limb power and function (gait) have improved. On regular physiotherapy, he can walk without support and the pincer grasp is gradually returning. Antihypertensives have been tapered and stopped.

It offers a diagnostic challenge for both the physicians and the surgeons. Only with a high index of suspicion, can we diagnose it early. This case illustrates the need for keeping in mind atypical presentations of phaeochromocytoma when evaluating children for ICH. Careful watch on paroxysmal hypertension as an early warning sign is necessary since it can often go unnoticed. Early diagnosis and adequate management help prevent significant morbidity and fatal outcomes. It is worth highlighting the need for a regular follow-up to prevent recurrences.

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Conflicts of interest

There are no conflicts of interest.