Idiopathic intracranial hypertension (IIH), often known as pseudotumor cerebri, is a well-defined illness with a wide range of clinical symptoms. Headache, vomiting, visual problems such as papilledema, cranial nerve palsies, or a combination of these symptoms are common. (1)
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory illness characterized by recurrent fever episodes and polyserositis. Optic neuritis, recurrent aseptic meningitis, cranial nerve lesions, IIH, ischemic stroke due to coincidental circumstances, and subclinical visual evoked potentials anomalies with demyelinatin are all examples of neurologic involvement in FMF.
REPORT ON THE CASE
For the last ten days, a 10-year-old kid had been experiencing frontal headaches, vomiting, and diplopia. He had been diagnosed with FMF (homozygous for the M694V mutation) and had been taking colchicine for a year. His symptoms had been reoccurring two or three times a month for around two years before he was diagnosed with FMF and treated. Colchicine medication alleviated his symptoms.
Vital indicators, including blood pressure, were normal during the assessment. He was likewise of average height and weight for his age. He was fully oriented on neurologic evaluation, with fluent speech and intact memory. There was bilateral papilledema as well as a palsy of the left sixth cranial nerve.The rest of the physical and neurological exams went without a hitch.
Routine hematological, biochemical, and urine investigations were all normal in the lab. Intracranial pressure was found to be high after a lumbar puncture (450 mm[H.sub.2]O). During the lumbar puncture, the patient was not upset and did not cry. The content of the cerebrospinal fluid was normal, and cultures were negative. Toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, Ebstein Barr virus, brucella, salmonella, hepatitis A, B, human immunodeficiency virus, Borrelia burgdorferi, and Mycoplasma pneumoniae serologic tests all came back negative. There was no cerebral lesion or thrombosis found in brain magnetic resonance imaging or magnetic resonance venography tests.
As a result, the patient was given the diagnosis of IIH. He was put on a daily dose of oral acetazolamide (20 mg/kg). Further tests for IIH-related illnesses, such as vitamin D, vitamin A, thyroid hormones, iron and ferritin levels, antibodies to numerous viruses, and immunological tests for autoimmune disorders, all came back negative. His neurological symptoms improved dramatically after treatment, and his optic disc edema disappeared on ophthalmological examination.As a result, lumbar puncture was not repeated.
DISCUSSION
Familial Mediterranean fever is an inherited disease that affects a variety of ethnic groups in the Middle East and Mediterranean. The FMF gene, which is found on chromosome 16p13.3 and is abbreviated as "MEFV" (for MEditerranean FeVer), produces pyrin, a 781-amino-acid protein. Pyrin is a negative regulator of inflammation that is mostly expressed in granulocytes. (6)
DISCUSSION
Although FMF is a multisystem disease, it is unknown whether it affects the central nervous system. Neurologic involvement in children with FMF is unusual, and just a few cases have been reported in the pediatric literature. (2,7-9) Although headaches are common, other symptoms are uncommon. A considerable portion of these symptoms could be linked to FMF, its consequences, connected disorders, and treatment-related side effects. (3)
Two of 52 children with FMF had seizures, according to Ertekin et al. (10) One of the patients had an electroencephalography anomaly, whereas the other was diagnosed as having a simple febrile convulsion. Gedalia and Zamir (8) found neurologic symptoms in 13 of 101 children with FMF in another investigation. Ten of the 13 patients had headaches during their acute fever bouts, two had convulsions, and one developed aseptic meningitis. Kalyoncu et al. (2) found seven individuals with demyelinating lesions, seven patients with cerebrovascular illness, and four patients with reversible posterior leukoencephalopathy syndrome among 18 patients with neurological symptoms.
IIH has been described in two adult FMF patients in the literature. Gokalp et al. (4) described a female patient who had IIH and FMF at the same time. Their patient was healthy, with a normal weight and all necessary laboratory and radiographic characteristics. Kumar gave a description of the second patient. (5) The link between FMF and IIH has never been reported in youngsters, to our knowledge. The pathogenetic mechanism underlying IIH in FMF is still unknown.
Autoinflammatory injury to the arachnoid villi and the resulting decrease in CSF fluid absorption, as well as thrombotic, vasculitic obliteration of the cerebral arteriolar and venous systems, are among the most likely processes. (3)
In conclusion, our patient is the first example of FMF and IIH cohabitation in the literature, to our knowledge. Despite the fact that the central nervous system is rarely impacted in FMF patients, neurologic involvement can result in severe disability. In children, IIH could be a symptom of FMF. It's critical to get a diagnosis as soon as possible if you want to keep your vision.
REFERENCES
(1.) Rangwala LM, Liu GT. Pediatric idiopathic intracranial hypertension. Surv Ophthalmol 2007; 52:597-617.
(2.) Kalyoncu U, Eker A, Oguz KK, Kurne A, Kalan I, Topcuoglu AM, et al. Familial Mediterranean fever and central nervous system involvement: a case series. Medicine (Baltimore) 2010; 89:75-84.
(3.) Feld O, Yahalom G, Livneh A. Neurologic and other systemic manifestations in FMF: published and own experience. Best Pract Res Clin Rheumatol 2012; 26:119-33.
(4.) Gokalp HZ, Baskaya MK, Aydin V. Pseudotumor cerebri with familial Mediterranean fever. Clin Neurol Neurosurg 1992; 94:261-3.
(5.) Kumar S. Bilateral disc edema in familial Mediterranean fever. J Clin Diagn Res 2007; 1:521-4.
(6.) French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17:25-31.
(7.) Akman-Demir G, Gul A, Gurol E, Ozdogan H, Bahar S, Oge AE, et al. Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association? J Neurol 2006; 253:928-34.
(8.) Gedalia A, Zamir S. Neurologic manifestations in familial Mediterranean fever. Pediatr Neurol 1993; 9:301-2.
(9.) Yilmaz U, Gulez N, Cubukcu D, Guzel O, Akinci G, Ozturk A. Recurrent peripheral facial palsy in a child with familial Mediterranean fever. Pediatr Neurol 2013; 49:289-91.
(10.) Ertekin V, Selimoglu MA, Pirim I. Familial Mediterranean fever in a childhood population in eastern Turkey. Pediatr Int 2005; 47:640-4.