A rare case of hypomelanosis of Ito with enlargement of Virchow-Rabin spaces in a 10-year-old child with symptoms of seizures.

Am J Neurodegener Dis 2023;12(3):103-107 www.AJND.us /ISSN:2165-591X/AJND0147238 Case Report A rare case of hypomelanosis of Ito with enlargement of Virchow-Rabin spaces in a 10-year-old child with symptoms of seizures Shamim Shafieyoon1, Ghazaleh Jamalipour Soufi1, Farzaneh Hekmatnia2, Andrew Parviz Zarei3, Ali Hekmatnia1, Zahra Mohajeri4 Radiology Department, Isfahan University of Medical Sciences, Isfahan, Iran; 2Radiology Department, St George’s Hospital, Blackshaw Road, Tooting, London SW17 0QT, UK; 3Department of Medicine, The Princes, Alexandra Hospital, London, UK; 4Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran 1 Received October 25, 2022; Accepted May 18, 2023; Epub June 15, 2023; Published June 30, 2023 Abstract: Hypomelanosis of Ito (HI) syndrome is a complex neuro-dermatological disorder that affects many organs in the body, including the skin, brain, eyes, and skeleton. This disease has been reported to present with seizures in a few rare cases. Seizures are seen in all age groups but are more common in children and the elderly. VirchowRobin spaces (VRSs) are spaces around small arteries and the arteries that pierce the surface of the brain and are spread throughout the rest of the brain. As individuals age, the number and size of VRSs increase. A relationship between dilated VRSs and neuropsychiatric disorders has been observed above a 2 mm threshold. The patient is a 10-year-old child who was referred to the neurology ward of Imam Hossein Children’s Hospital in Isfahan about 2.5 months ago due to seizures. The last seizure occurred four days before the visit, and the patient was sent for a brain computed tomography (CT) scan, which revealed diffuse bilateral hypopigmented lesions in the brain’s white matter. The results of the para-clinical tests were relatively unremarkable. In the early stages of hospitalization, the child received treatment such as fluid therapy and anticonvulsant drugs to stabilize their vital condition. The patient’s para-clinical tests, including brain CT, electroencephalogram, complete blood count, liver function test, and magnetic resonance imaging, showed the presence of HI syndrome and bilateral diffuse hypopigmented lesions in the white matter. Keywords: Hypomelanosis of Ito, seizure, Virchow-Robin space Introduction Hypomelanosis of Ito (HI) syndrome is a complex neuro-dermatological disorder that affects many organs in the body, including the skin, brain, eyes, and skeleton. This disease is caused by a skin abnormality that affects areas of the body with low or absent pigmentation in a bilateral, unilateral, or circular manner [1]. The diagnostic criteria for HI include non-hereditary cutaneous hypopigmented linear streaks or patches involving more than two body segments that appear at birth or in the first few months of life, as well as one or more neurological or musculoskeletal manifestations. The diagnosis of HI is made through a computed tomography (CT) or magnetic resonance imaging (MRI) scan of the head [2]. Hypomelanosis of Ito (HI) syndrome is associated with several disorders, most commonly affecting the central nervous system, bones, and eyes. The main clinical presentations of HI include strabismus, hearing problems, hirsutism, scoliosis, seizures, intellectual disability, and mouth or tooth problems [1]. It affects both men and women equally and is typically a recurrent disorder with a low chance of recurrence [3, 4]. The incidence and prevalence of HI per birth and individual have been reported to be 7540.1 and 82000.1, respectively. Rare cases of HI have been reported with seizures [5, 6]. Seizures are the most common treatable neurological disorder in children. The causes of seizures include a wide range of diseases involving Hypomelanosis of Ito with enlargement of Virchow-Rabin spaces the nervous system. Seizures result from a malfunctioning electrical system in the brain caused by the depletion of cerebral cortical neurons. Symptoms of seizures depend on the location of the disorder in the brain and may include a lack of awareness of the environment, involuntary movements, perceptual changes, behaviors, emotions, and posture of the patient [7, 8]. Seizures are observed in all age groups but are more frequent in children and the elderly. Approximately one in ten children will experience a seizure during the first 16 years of life, and the highest incidence of seizures in children is observed during the first few months of life. The causes of seizures in children vary depending on their age, with birth injuries being the most common cause in young infants, including intracranial injury, bleeding, anoxia, or congenital brain abnormalities [7, 9]. Treatment of HI is based on the severity of clinical manifestations. According to the available evidence, cutaneous manifestations of HI do not necessitate treatment and may be covered with makeup if desired by the patient [2, 5]. Neurological manifestations, such as seizures, can be managed with valproic acid [2]. The prognosis is influenced by the patient’s symptoms and disease-related complications. Virchow-Robin spaces (VRSs) are spaces around small arteries and the arteries that penetrate the surface of the brain and extend throughout the brainstem, initially described in the works of Rudolf Virchow and Charles Philipp Robin, a German pathologist and anatomist [10]. In the deeper regions of the brain, VRSs are surrounded by the basal ganglia, with the blood vessels’ outer surface in the center. The soft tissues of the VRSs form a closed space filled with fluid that separates the cerebrospinal fluid from the spinal cord. They are also observed in the normal population. Small VRSs (less than 2 mm) are observed in all age groups, and their number and size (above 2 mm) increase with age. Some studies have identified an association between dilated VRSs and neuropsychiatric disorders. Therefore, based on the current 104 literature, we present a case report of a 10-year-old child who was referred to the hospital with seizures. Case report This report is on a 10-year-old child from Iranian Kurdistan who was referred to the neurology ward of Imam Hossein Children’s Hospital in Isfahan due to four seizure episodes. The patient did not have a history of movement disorders. We obtained written informed consent from the parents. The presence of bilateral diffuse hypopigmented lesions in the white matter of the brain observed in the CT scan may suggest a neurological disorder, which may explain the patient’s seizures and developmental delay following birth. The fact that the seizures occurred during sleep may indicate a potential link between the seizures and the patient’s sleep patterns. It is important to conduct further tests to determine the underlying cause of the hypopigmented lesions and seizures, as well as to develop an appropriate treatment plan. The clinical examination was normal except for the presence of hypopigmented lesion (...truncated)