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Article: Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the

Alosaimi, Mohammed F / Hamad, Muddathir H / AlShammari, Muneera J / Jamjoom, Dima Z / Musibeeh, Najd S

2023 Volume 11, Page(s) 1269396

Abstract: Background: Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the : Objective: We report the case of a Saudi boy with a novel mutation in the : Methods: We reviewed the patient's ... ...

Abstract	Background: Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the Objective: We report the case of a Saudi boy with a novel mutation in the Methods: We reviewed the patient's clinical and laboratory data obtained from medical records and performed a literature search on BLS II. Results: The patient presented with acute meningoencephalomyelitis confirmed by MRI findings and was later found to carry a homozygous pathogenic variant in the Conclusions: We report a case with a novel
Language	English
Publishing date	2023-09-29
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2023.1269396
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Article: Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center.

Kentab, Amal Y / Al Bulayhi, Shumukh / Hamad, Muddathir H / Al Wadei, Ali / Bashiri, Fahad A

Neurosciences (Riyadh, Saudi Arabia)

2022 Volume 27, Issue 4, Page(s) 244–250

Abstract: Objectives: To investigate seizure characteristics, types, and define the etiology of epilepsy in children aged ≤2 years using the 2017 ILAE classification.: Methods: A retrospective chart review was conducted at King Khalid University Hospital, King ...

Abstract	Objectives: To investigate seizure characteristics, types, and define the etiology of epilepsy in children aged ≤2 years using the 2017 ILAE classification. Methods: A retrospective chart review was conducted at King Khalid University Hospital, King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia for children below 2 years of age diagnosed with epilepsy, and on anti-seizure medications from January 2017 - December 2018. The collected data involved detailed information on the patients' seizure, electroclinical, neuroimaging, laboratory evaluations, and underlying etiology. Results: One- hundred and fifty patients were included in the study and classified according to etiology into: genetic (43, 28.7%), structural (41, 27.3%), metabolic (10, 6.7%), infectious (8, 5.3%), immune-mediated (1, 0.7%) and unknown (47, 31.3%) groups. The most common seizure types were generalized epilepsy, among which generalized tonic-clonic seizures occurred in 56 (37%) patients, followed by tonic seizures in 31 (21%), infantile spasm in 19 (13%), myoclonic seizures in 4 (2.7%), atonic seizures in 6 (4%), and focal seizures in 33 (22%) patients. Global developmental delay and abnormalities in both neurologic exam and neuroimaging were more common in the structural and genetic groups. Electroencephalography was abnormal in 82 (55%) patients, including the majority of the structural group (26, 63.4%). Conclusion: The etiology of epilepsy in this cohort remains undetermined (unknown) in a large proportion of cases, followed by genetic and structural causes. This result added to the published international data about epilepsy in the first 2-years of life.
MeSH term(s)	Child ; Child, Preschool ; Electroencephalography ; Epilepsies, Myoclonic/diagnosis ; Epilepsies, Myoclonic/drug therapy ; Epilepsies, Myoclonic/genetics ; Epilepsy/epidemiology ; Epilepsy/etiology ; Epilepsy, Generalized ; Humans ; Retrospective Studies ; Seizures ; Tertiary Healthcare
Language	English
Publishing date	2022-10-17
Publishing country	Saudi Arabia
Document type	Journal Article
ZDB-ID	2214806-1
ISSN	1319-6138
ISSN	1319-6138
DOI	10.17712/nsj.2022.4.20220001
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Article: Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.

Bashiri, Fahad A / AlSheikh, Rawan / Hamad, Muddathir H / Alsheikh, Hamad / Alsheikh, Rana Abdullah / Kentab, Amal / AlTheeb, Najd / Alghamdi, Malak

Children (Basel, Switzerland)

2023 Volume 10, Issue 8

Abstract: Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic ... ...

Abstract	Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations. Methods: A retrospective chart review was conducted among children presented with epilepsy in one center in Saudi Arabia between 2015 and 2018. Only those who had undergone genetic testing were included. Results: A total of 45 patients had positive whole-exome sequencing (WES) genetic testing with 37 mutations. Six mutations (SCN1A, DENND5A, KCNQ2, ACY1, SCN2A, and PCDH19) were repeated in 15 patients, with largely heterogeneous phenotypic presentations in patients with the same mutation. Several mutations are reported for the first time in Saudi Arabia. The median age at epilepsy onset was four months. Consanguineous parents and family history of epilepsy were frequent (31.8% and 33.3%, respectively). Developmental delay (44.4%), cognitive delay (42.2%), language delay (40.0%), behavioral features (28.9%), and microcephaly (20.0%) were frequent presentations. At initial diagnosis, 68.9% of EEG and 48.9% of brain MRI were abnormal. The most currently used antiseizure medications (ASMs) were levetiracetam (48.9%), topiramate (28.9%), and valproic acid (20.0%). Approximately 60% of the patients were controlled with (47.6%) or without (11.9%) ASMs, and three (7.1%) patients died. Conclusions: Multiple mutations among children with epilepsy are reported in one hospital in Saudi Arabia, with the majority reported for the first time. The current findings highlight the importance of doing genetic testing for the evaluation of childhood epilepsy.
Language	English
Publishing date	2023-08-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children10081334
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Article ; Online: Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center.

Bashiri, Fahad A / Al Dosari, Abdullah / Hamad, Muddathir H / Kentab, Amal Y / Alwadei, Ali H

International journal of pediatrics & adolescent medicine

2021 Volume 9, Issue 2, Page(s) 131–135

Abstract: Purpose and background: To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia.: Methods: This retrospective study reviewed the medical and EEG records of patients who were ... ...

Abstract	Purpose and background: To evaluate the electro-clinical manifestations and outcomes of children with absence epilepsy at a tertiary center in Saudi Arabia. Methods: This retrospective study reviewed the medical and EEG records of patients who were diagnosed to have CAE as per the International League Against Epilepsy (ILAE) definition for CAE. The study was conducted in the pediatric neurology clinic of King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia, between January 2000 and December 2019. Patients who did not meet (ILAE) criteria, lost follow-up, and those who did not receive treatment at KKUH were excluded. Data regarding the patient's disease, electro-clinical manifestations, anti-seizure medication response, and outcomes were collected. Results: A total of 35 patients, with an average age at diagnosis of 7 ± 2.1 y, were included in the study; among them, 51.4% were female and approximately 48.6% presented with a family history of epilepsy. Regarding clinical features, all patients experienced staring and altered awareness, 94.2% had less than 20 spells per day at the time of diagnosis, and 65.7% were provoked by the hyperventilation test. Regarding EEG findings, all patients had bilateral, symmetrical, and synchronous discharges in the form of regular 3 Hz spike-and-wave complexes, and 94.3% had a generalized initial ictal discharge. Also, 22.8% had eye fluttering with electrographic seizures. Ethosuximide (ESM) was used as the drug of choice in 45.7% of the patients. Regarding clinical outcomes, 94.3% had their disease clinically controlled, and 80% had a normalized EEG after few months of starting anti-seizure medication. Finally, 37.2% experienced complete remission of epilepsy after 3-5 y; however, one patient developed juvenile myoclonic epilepsy. Conclusion: This study described the electro-clinical manifestations of patients with childhood absence epilepsy and outcomes. Furthermore, early diagnosis and prompt treatment of childhood absence epilepsy improve treatment outcomes.
Language	English
Publishing date	2021-11-26
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2832064-5
ISSN	2352-6467 ; 2352-6467
ISSN (online)	2352-6467
ISSN	2352-6467
DOI	10.1016/j.ijpam.2021.11.003
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Article: Prevalence and Related Risk Factors of Vitamin D Deficiency in Saudi Children with Epilepsy.

Al Khalifah, Reem / Hamad, Muddathir H / Hudairi, Abrar / Al-Sulimani, Lujain K / Al Homyani, Doua / Al Saqabi, Dimah / Bashiri, Fahad A

Children (Basel, Switzerland)

2022 Volume 9, Issue 11

Abstract: Background: Vitamin D has a role in the pathogenesis of many medical disorders, especially those of the central nervous system. It is essential in maintaining the bone health of children. However, patients with epilepsy are at high risk of developing ... ...

Abstract	Background: Vitamin D has a role in the pathogenesis of many medical disorders, especially those of the central nervous system. It is essential in maintaining the bone health of children. However, patients with epilepsy are at high risk of developing vitamin D deficiency due to antiseizure medications (ASMs). Therefore, we aimed to assess the prevalence of vitamin D deficiency and related risk factors in children with epilepsy. Methods: This is the baseline report of a pragmatic, randomized, controlled, open-label trial that assessed the impact of vitamin D supplementation in preventing vitamin D deficiency (NCT03536845). We included children with epilepsy aged 2-16 years who were treated with ASMs from December 2017 to March 2021. Children with preexisting vitamin D metabolism problems, vitamin-D-dependent rickets, malabsorption syndromes, renal disease, and hepatic disease were excluded. The baseline demographic data, anthropometric measurements, seizure types, epilepsy syndromes, ASMs, and seizure control measures were recorded. Blood tests for vitamin D (25-hydroxyvitamin D [25(OH)D), serum calcium, serum phosphorus, and parathyroid hormone levels were performed. Based on vitamin D concentration, patients were categorized as deficient (<50 nmol/L), insufficient (74.9-50 nmol/L), or normal (>75 nmol/L). Results: Of 159 recruited children, 108 (67.92%) had generalized seizures, 44 (27.67%) had focal seizures, and 7 (4.4%) had unknown onset seizures. The number of children receiving monotherapy was 128 (79.0%) and 31 (19.1%) children were receiving polytherapy. The mean vitamin D concentration was 60.24 ± 32.36 nmol/L; 72 patients (45.28%) had vitamin D deficiency and 45 (28.3%) had vitamin D insufficiency. No significant difference in vitamin D concentration was observed between children receiving monotherapy and those receiving polytherapy. The main risk factors of vitamin D deficiency were obesity and receiving enzyme-inducer ASMs. Conclusions: The prevalence of vitamin D deficiency was high among children with epilepsy. Obese children with epilepsy and those on enzyme-inducer ASMs were at increased risk for vitamin D deficiency. Further studies are needed to establish strategies to prevent vitamin D deficiency.
Language	English
Publishing date	2022-11-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children9111696
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Article: Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center.

Bashiri, Fahad A / Al-Sehemi, Matar A / Hamad, Muddathir H / Alshammari, Nawaf R / Aljumah, Mujtaba A / Kentab, Amal / Salih, Mustafa A

Neurosciences (Riyadh, Saudi Arabia)

2021 Volume 26, Issue 1, Page(s) 21–25

Abstract: Objectives: To assess the neurodevelopmental and epilepsy outcomes in children with infantile spasms (IS).: Methods: A retrospective chart review of all patients with infantile spasms admitted to King Khalid University Hospital (KKUH), Riyadh, Saudi ... ...

Abstract	Objectives: To assess the neurodevelopmental and epilepsy outcomes in children with infantile spasms (IS). Methods: A retrospective chart review of all patients with infantile spasms admitted to King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia between January 2000 and December 2017. Infants who were diagnosed to have IS as per the International League Against Epilepsy (ILAE) definition were included in this study. Patients who lost follow-up and those who did not receive treatment at KKUH were excluded. Results: Total of 53 patients were included and categorized into unknown, cryptogenic and symptomatic type of IS. The majority had symptomatic etiology (71.7%). Type of etiology and delay in initiation of treatment were significant predictors of motor and cognitive outcomes, but not seizure control. Patients with unknown IS, who were diagnosed earlier (0.72-month), had better neurodevelopmental outcomes. Vigabatrin in combination with either Adrenocorticotropic hormone (ACTH) or Prednisolone showed better seizure control in comparison to monotherapy and other combination modalities. Conclusion: Neurodevelopmental outcomes of IS are strongly associated with the underlying etiology. Early initiation of treatments had a favorable cognitive and motor outcome. Early response to combination therapy with resolution of spasms and hypsarrhythmia had better seizure outcomes. However, motor and cognitive outcomes were not affected by the response to the combination therapy.
MeSH term(s)	Adrenocorticotropic Hormone/therapeutic use ; Anticonvulsants/therapeutic use ; Drug Therapy, Combination ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Prednisolone/therapeutic use ; Retrospective Studies ; Saudi Arabia ; Spasms, Infantile/drug therapy ; Tertiary Care Centers ; Treatment Outcome ; Vigabatrin/therapeutic use
Chemical Substances	Anticonvulsants ; Adrenocorticotropic Hormone (9002-60-2) ; Prednisolone (9PHQ9Y1OLM) ; Vigabatrin (GR120KRT6K)
Language	English
Publishing date	2021-01-30
Publishing country	Saudi Arabia
Document type	Journal Article
ZDB-ID	2214806-1
ISSN	1319-6138
ISSN	1319-6138
DOI	10.17712/nsj.2021.1.20200087
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Article: Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Alhasan, Khalid A / Alshuaibi, Walaa / Hamad, Muddathir H / Salim, Suha / Jamjoom, Dima Z / Alhashim, Aqeela H / AlGhamdi, Malak Ali / Kentab, Amal Y / Bashiri, Fahad A

Children (Basel, Switzerland)

2022 Volume 9, Issue 9

Abstract: Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic ... ...

Abstract	Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the Objective: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the Design: A retrospective case series. Setting: University, Tertiary hospital. Participants: Three unrelated pediatric patients with hypermanganesemia with dystonia type 2, genetically confirmed to be secondary to a mutation in the Exposures: Chelation therapy using calcium disodium edetate. Main outcome(s) and measure(s): The response to chelation therapy based on clinical improvements in motor and cognition developments. Results: All three patients were started on chelation therapy using calcium disodium edetate, and two of them showed an improvement in their clinical course. The chelation therapy could alter the course of the disease and prevent deterioration in the clinical setting. Conclusions and relevance: Early diagnosis and intervention with chelating agents, such as calcium disodium edetate, will help change the outcome in patients with hypermanganesemia with dystonia type 2. This finding highlights the importance of early diagnosis and treatment in improving the outcomes of patients with treatable neurodegenerative disorders.
Language	English
Publishing date	2022-09-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children9091335
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Article: Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.

Mohamed, Sarar / Hamad, Muddathir H / Abu-Amero, Khaled K

Saudi medical journal

2015 Volume 36, Issue 9, Page(s) 1110–1114

Abstract: The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The ... ...

Abstract	The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The infants aged 6 days (patient 1) and 3 months (patient 2) with sepsis-like picture, metabolic acidosis, and hyperammonemia were presented. Investigations revealed high propionylcarnitine (C3), elevated urinary methylmalonic acids, 3-hydroxypropionic acids and methylcitrate, consistent with MMA. Sanger-sequencing detected a homozygous novel mutation (c.329A>G; p.Y110C) in the MUT gene in patient 1 and a heterozygous in parents. This mutation is predicted to have a damaging effect on the protein structure and function. In patient 2, we detected a novel homozygous nonsense mutation (c.2200C>T; p.Q734X) and a heterozygous in parents. This mutation leads to a premature stop-codon at codon 734 of the MUT gene. We identified 2 novel mutations in the MUT gene causing isolated MMA.
MeSH term(s)	Animals ; Homozygote ; Humans ; Methylmalonyl-CoA Mutase/genetics ; Mice ; Mutation ; Saudi Arabia
Chemical Substances	Methylmalonyl-CoA Mutase (EC 5.4.99.2)
Language	English
Publishing date	2015-09
Publishing country	Saudi Arabia
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	392302-2
ISSN	1658-3175 ; 0379-5284
ISSN (online)	1658-3175
ISSN	0379-5284
DOI	10.15537/smj.2015.9.12118
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Article ; Online: Vitamin D supplementation to prevent vitamin D deficiency for children with epilepsy: Randomized pragmatic trial protocol.

Khalifah, Reem Al / Hudairi, Abrar / Homyani, Doua Al / Hamad, Muddathir H / Bashiri, Fahad A

Medicine

2018 Volume 97, Issue 40, Page(s) e12734

Abstract: Background: Vitamin D deficiency is highly prevalent among children with epilepsy. Lack of high-quality evidence led to variability among scientific societies recommendations. Therefore, we aim to determine the efficacy of different common doses used in ...

Abstract	Background: Vitamin D deficiency is highly prevalent among children with epilepsy. Lack of high-quality evidence led to variability among scientific societies recommendations. Therefore, we aim to determine the efficacy of different common doses used in the pediatric practice to maintain optimal 25-hydroxy vitamin D (25 [OH] vitamin D) level in children with epilepsy and normal baseline 25 (OH) vitamin D level over 6 months of supplementation. Methods: This is a protocol for phase IV pragmatic randomized superiority controlled open-label trial at King Saud University Medical City in Riyadh. Children with epilepsy and receiving chronic antiepliptic medication and normal baseline 25 (OH) vitamin D level will be randomly assigned to receive Cholecalciferol 400 IU/day versus 1000 IU/day for 6 months. Our primary outcome is the proportion of children with vitamin D insufficiency (25 (OH) vitamin D level < 75nmol/L) at 6 months. Secondary outcomes include seizure treatment failure, seizure frequency, parathyroid hormone (PTH) levels, bone mineral density, and safety. Discussion: Our trial is set out to evaluate the efficacy of common different vitamin D maintenance doses on 25 (OH) vitamin D level, seizure control, and bone health for children with epilepsy. The results of our study will possibly help in shaping current vitamin D guidelines for vitamin D supplementation in children with epilepsy and provide a link between 25 (OH) vitamin D level and seizure control.
MeSH term(s)	Adolescent ; Bone Density ; Child ; Cholecalciferol/therapeutic use ; Clinical Protocols ; Dietary Supplements ; Epilepsy/blood ; Epilepsy/complications ; Female ; Humans ; Male ; Nutritional Status ; Parathyroid Hormone/blood ; Treatment Outcome ; Vitamin D/analogs & derivatives ; Vitamin D/blood ; Vitamin D Deficiency/prevention & control ; Vitamins/therapeutic use
Chemical Substances	Parathyroid Hormone ; Vitamins ; Vitamin D (1406-16-2) ; Cholecalciferol (1C6V77QF41) ; 25-hydroxyvitamin D (A288AR3C9H)
Language	English
Publishing date	2018-09-12
Publishing country	United States
Document type	Clinical Trial, Phase IV ; Journal Article ; Pragmatic Clinical Trial
ZDB-ID	80184-7
ISSN	1536-5964 ; 0025-7974
ISSN (online)	1536-5964
ISSN	0025-7974
DOI	10.1097/MD.0000000000012734
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Article: The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

Kentab, Amal Y / Hassan, Hamdy H / Hamad, Muddathir H A / Alhumidi, Ahmed

Sudanese journal of paediatrics

2016 Volume 14, Issue 2, Page(s) 61–70

Abstract: The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association ... ...

Abstract	The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a neurocutaneous disorder. We report a 10-year-old boy who presented with constellation of multiple congenital anomalies including facial dysmorphism, skin hypopigmentation, musculoskeletal, and nervous system abnormalities. The latter manifested as hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed normal finding initially, however; follow-up diffusion weighted images were suggestive of a possible iron accumulation. The facial phenotype coupled with the bilateral globus pallidi lesions were never been reported in association with HI. Thus, our patient represents a possible novel example of HI.
Language	English
Publishing date	2016-06-15
Publishing country	Sudan
Document type	Case Reports
ZDB-ID	3035197-2
ISSN	1858-8360 ; 0256-4408
ISSN (online)	1858-8360
ISSN	0256-4408
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