Outcomes of central nervous system tuberculosis in Saudi Arabia: a multi-center study.

OBJECTIVES: Central nervous system tuberculosis (TB) (CNS-TB) can occur in several forms, including intracranial tuberculoma, tuberculous brain abscess, TB meningitis (TBM), and spinal TB. Early treatment can save lives and prevent severe neurological complications. This study aimed to describe the characteristics and post-treatment outcomes of patients with CNS-TB and identify factors associated with poor outcomes. To the best of our knowledge, this is the largest CNS-TB study till date published in Saudi Arabia. METHODS: This retrospective cohort study included all patients diagnosed with CNS-TB in three tertiary centers in Saudi Arabia (King Abdulaziz Medical City in Jeddah, King Abdulaziz Medical City in Riyadh, and Al-Noor Specialist Hospital in Makkah) between 2009 and 2019. Data of patients' demographics, co-morbidities, presenting symptoms, type of CNS-TB, medical and surgical treatments, and outcome after completion of treatment were obtained from medical records. Treatment outcomes were categorized using the modified Rankin Scale for neurological disability. RESULTS: A total of 140 participants were included in this study from 2009 to 2019. Good outcomes were achieved in approximately 65% of cases, whereas 35% had poor outcomes based on the modified Rankin Scale. Glasgow Coma Scale score ≤10 at presentation and TBM/tuberculoma were significantly associated with poor outcomes. Moreover, the use of corticosteroids, more than three anti-TB medications, and surgical interventions were not significantly associated with good or poor outcomes. DISCUSSION: CNS-TB is associated with a high burden of long-term neurological morbidity. Early detection and treatment are crucial to prevent serious complications and decrease morbidity and mortality.

Spinal Dysraphism Presenting as Neuropathic Ulcers: A Case Report of a Delayed Diagnosis.

Spinal dysraphism (SD) refers to the abnormal fusion of dorsal midline structures during embryogenesis. It encompasses a variety of congenital spinal defects, ranging from an overt defect in which neural tissue is exposed with no overlying skin (open SD) such as myelomeningoceles to skin-covered malformations (closed or occult SD). A 13-year-old boy presented with recurrent multiple painless ulcers and erosions over the tips of the toes, mainly involving the right foot with hemorrhagic crusts for 5 years. A review of systems revealed back pain, urine incontinence, and numbness in his right knee. He was diagnosed with peripheral neuropathic ulcers and tethered cord syndrome secondary to SD and confirmed by MRI. He underwent cord detethering and lipoma resection as well as expectant therapy with satisfying outcomes. Physicians should consider early diagnosis of SD to avoid later neurological complications of SD (traction and/or pressure on the spinal cord) when infants are presented with such anomalies: MRI, close follow-up, and neurosurgical intervention may be recommended.

Juvenile Dermatomyositis Presenting As Generalized Poikiloderma: A Case Report.

Juvenile dermatomyositis (JDM) is a chronic autoimmune inflammatory disorder and is considered the most common form of idiopathic inflammatory myopathies. JDM primarily affects the skin and the skeletal muscles. Characteristic signs and symptoms include Gottron papules, heliotrope rash, calcinosis cutis, and symmetrical proximal muscle weakness. However, JDM presenting with generalized scaly poikeloderma is an unfamiliar presentation. Herein we report a 14-month-old female toddler presented with generalized progressive asymptomatic scaly mottled violaceous patches (poikilodermatous) that started when she was seven months old. Her lab results were unremarkable. She was diagnosed with poikilodermatous skin rash with a differential diagnosis of Amyopathic dermatomyositis, poikilodermatous genodermatosis, and patch-stage mycosis fungoides. She was prescribed moisturizer creams only. A year later, during a follow-up, she presented with a full picture of JDM, with a history of scaly poikilodermatous skin patches that became more widespread, frequent choking during oral intake, and not being able to stand and sit unsupported. Laboratory workup was significant for low WBC and hemoglobin counts, along with elevated CPK, LDH, ferritin, CRP, and ESR levels. MRI revealed the right anterior thigh and vastus lateralis subcutaneous edema. Therefore, the child was diagnosed and treated as a case of JDM.

Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis.

Pityriasis rubra pilaris (PRP) is a rare inflammatory papulosquamous skin disease that has six distinct types. Type 5 PRP is called atypical juvenile PRP. Here we report the case of a 17-year-old boy with insignificant past medical history presenting with a history of persistent slowly progressing very itchy skin lesions since the age of seven years. The lesions were photoaggravated. No similar cases in the family were observed and the parents were not consanguint. Skin examination revealed scaly erythematous patches, papules and plaques all over his body. There were also ichthyosiform-like scales covering the whole body. Hair, nails, and mucus membranes examinations were normal. A 4-mm punch skin biopsy was taken. The dermis revealed hyperkeratosis with checkerboard pattern of orthokeratosis and parakeratosis, the granular layer was preserved and acanthosis with thick and short rete ridges. The dermis showed mild perivascular lymphocytic infiltrates. On the basis of the above clinicopathological findings, the diagnosis of pityriasis rubra pilaris (atypical juvenile type) (type 5) was made. The patient was started on isotretinoin capsule 20 mg twice a day and placed under periodic follow-up.

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.

Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth. Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion. A single proband (II-1) exhibited features such as diffused non-scarring alopecia on the scalp, intraepidermal blister, post-inflammatory hyperpigmented macules, and follicular hyperkeratosis. DNA of the index was subjected to whole-genome sequencing (WGS). Furthermore, 3D protein modeling was performed for the mutated and normal protein. Results: WGS revealed a novel bi-allelic missense variant (c.154G>C; p. Val52Leu) in the DSC3 gene, which segregated perfectly using Sanger sequencing. In addition, 3D protein modeling revealed a substantial change in the mutated DSC3 protein as compared to the normal DSC3 protein. Conclusion: This is the 3rd novel variant reported in the DSC3 gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the DSC3 cause severe HYPTSV in humans.

Quality of Life in Children With Diabetes Treated With Insulin Pump Compared With Multiple Daily Injections in Tertiary Care Center.

BACKGROUND: Continuous Subcutaneous Insulin Infusion (CSII) and Multiple Daily Injections (MDI) have been widely used as options in treating diabetes in childhood. Glycemic control is important to reduce diabetes complications; however, more focus needs to be on patients' Quality of Life (QoL). Diabetes and QoL have strong associations in terms of patients' overall health including their psychology, physical well-being, compliance with medication. A previous systematic review stressed that strong evidence to deny or prove the benefits of insulin pump therapy on health-related quality of life is deficient. The aim of this study is to assess the health-related quality of life and the psychological impacts of children with diabetes who use CSII and MDI treatment. METHODS: A cross-sectional study included 68 pediatric patients with type 1 Diabetes (T1DM) who were treated in a tertiary center in Jeddah, Saudi Arabia. We used the Pediatric Quality of Life Inventory 3.0 Diabetes Module and this module assesses the health-related quality of life of children with diabetes. RESULTS: Thirty-four (50%) participants found to be on MDI, of which 21 (61.8%) are males, compared to 34 (50%) patients using CSII, of which 12 (35.2%) are females. Participants using CSII had statistically significant better symptom control, less treatment difficulties but were more worrisome than MDI participants. CONCLUSION: CSII group had better quality of life in almost all aspects even though they were more worrisome. Further studies with a larger sample size are needed to give comprehensive generalizations.