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Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents. During the last trimester of pregnancy, a congenital abnormality affecting the nose was detected. Immediately after birth, the clinical examination revealed dysmorphic features in the form of hypoplastic alae nasi, microcephaly, mild hypotelorism, and cutis aplasia on the scalp. The genetic testing of the patient showed a novel sequence change mutation of the UBR1 gene (1bp duplication causing a frameshift), while both parents were carriers for this mutation. Moreover, a diagnosis of pancreatic insufficiency and subclinical hypothyroidism was made based on clinical presentation and laboratory results. The patient was started on pancreatic enzyme replacement therapy and fat-soluble vitamins, minerals, and antioxidant syrup. Further assessment revealed hypotonia, growth impairment, delay in reaching developmental milestones, and bilateral profound sensorineural hearing loss, which was managed with bilateral cochlear implantation. In addition, the patient underwent multiple craniofacial reconstructive surgeries. This case report highlights the importance of early diagnosis and multidisciplinary care of patients with JBS., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Isa et al.)

Internal carotid artery dissection is a rare vascular condition with potentially life-threatening consequences, often resulting in intramural hematomas and luminal narrowing. Various etiological factors, including cocaine use, contribute to its occurrence. This case report explores a striking instance of bilateral internal carotid artery dissection in a middle-aged man with a history of chronic cocaine use, shedding light on the intricate relationship between substance abuse and vascular pathology. We present the case of a 47-year-old man with a significant history of chronic cocaine use presented with sudden-onset severe headaches and visual disturbances, including blurred vision and diplopia. Physical examination revealed signs of Horner's syndrome and neurological involvement. Diagnostic imaging confirmed bilateral internal carotid artery dissections, primarily on the right side, with mural hematoma formation and luminal narrowing. Immediate management included pain control, blood pressure regulation, and discontinuation of cocaine use. The patient's symptoms gradually resolved with anticoagulation therapy, and he was discharged with a comprehensive follow-up plan. This case of bilateral internal carotid artery dissection in a middle-aged man with a history of chronic cocaine use underscores the intricate relationship between this condition and substance abuse. It highlights the need for a comprehensive clinical history to identify potential links between substance use and vascular pathologies. The multidisciplinary approach to diagnosis and management is crucial in optimizing patient outcomes. Addressing substance abuse as a contributing factor to vascular pathology is essential, emphasizing the importance of comprehensive care and support for affected individuals, and contributing valuable insights to the existing literature on vascular pathology., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Abdulnabi et al.)