Unusual Presentation In Infratentorial Superficial Siderosis: Acute Intracranial Hypertension

11 Jan, 2021 ,

Guimarães Rocha et al. report the case of a 31-year-old man with a history of recurrent headache with nausea, photo-, and phonophobia and diplopia. Neurological examination showed right abducent nerve palsy and bilateral papilledema and several surfaces with a diffuse low signal were observed in both MRI of the brain and spine. An elevated pressure was seen during lumbar puncture and CSF drainage and CSF analysis revealed pathologic ferritin levels. The patient experienced a temporary relief in symptoms post CSF drainage and was put on acetazolamide for the treatment of intracranial hypertension.

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A 31-year-old man was admitted with an 18-day history of a moderate to severe recurrent headache, presenting gradual onset from occipital to bifrontal regions, pulsatile, disabling for routine activities, in episodes lasting beyond 4 h, and progressive worsening. He also related nausea, photo-, and phonophobia in all episodes. Additionally, he presented a history of similar, but less severe, annual headache episodes since adolescence. He had no other comorbidities, apart from mild alcoholism for a decade, being abstinent for 3 years. He denied traumatic brain injury or a previous stroke.

On his first headache day, he received intravenous analgesia at the emergency service, with partial relief of pain. Three days afterwards, he returned due to persistent headache and a sudden episode of tonic generalized posture associated with loss of consciousness, lasting less than a minute. On the following days, he disclosed pain alleviation with oral analgesics, but he noticed the appearance of progressively worsening double vision. He was referred to a neurology service by an ophthalmologist.

The neurological examination revealed binocular diplopia, right abducent nerve palsy, and bilateral papilledema. There were no cerebellar or pyramidal tract abnormalities, nor cognitive or behavioral complaints. MRI of the brain showed a diffuse low signal at T1, T2, and GRE, on the infratentorial surfaces, at the level of brainstem, quadrigeminal plate, cerebellum, on the supratentorial at the thalamic surface at lateral ventricles, Sylvian fissure, and paramedian surfaces at frontal and temporal lobes. Besides, there was mild cerebellar atrophy and enlargement of the fourth ventricle. Additional spinal cord MRI showed similar low signal throughout surfaces, with no other abnormalities. Cerebral and spinal digital subtraction arteriography resulted in negative findings for vascular or dural abnormalities or any cause for hemosiderin superficial deposition. Routine biochemical and hematological laboratory tests were unremarkable.

A lumbar puncture disclosed cerebrospinal fluid (CSF) opening pressure (OP) of 45 cm H2O and closing pressure of 12 cm H2O after draining 10 mL in serial tubes. There was significant relief of headache and amelioration of diplopia after CSF drainage. CSF analysis showed no leucocytes or red cells, normal protein, and glucose levels. Pathologic CSF ferritin levels were observed (198 ng/mL; reference value <12 ng/mL), whereas serum ferritin was within normal limits (200 ng/mL; reference value = 21.8–274.6 ng/mL for men).

Three days after lumbar puncture, there was recrudescent headache and mild diplopia. A new lumbar puncture disclosed OP of 32 cm H2O, with clinical improvement of symptoms after drainage. In the next days, he received pharmacological treatment for intracranial hypertension with progressively increasing dosages of acetazolamide. Despite dose optimization of acetazolamide and associated topiramate, the patient presented recurrence of symptoms with high CSF OP. A lumbar-peritoneal shunt aiming to control intracranial pressure was indicated, but the patient refused, as well as treatment with deferiprone. He was discharged after considerable clinical amelioration of both headache and diplopia and in regular use of acetazolamide (1,500 mg/day) and topiramate (150 mg/day). Despite the absence of auditive impairment complaint, brain evoked response audiometry was performed and depicted a neurosensorial deficit. The last CSF study disclosed OP of 12 cm H2O. Considering the MRI findings of SS and the unremarkable cerebral and spinal angiographic studies, ruling out any source of occult bleeding in the nervous system, the diagnosis of classical iSS was made, despite the absence of canonical cerebellar and pyramidal tract signs and symptoms. The subject has given his written informed consent to publish his case, including publication of images.