IntroductionLateral meningocele is a rare form of spinal dysraphism where meningeal diverticula herniate through the neural foramina. While most meningoceles are dorsal and lumbosacral, lateral meningoceles typically occur in the thoracic region. The etiology is incompletely understood but is thought to involve failed caudal neural tube closure, influenced by folate deficiency, genetic factors, and environmental exposures [1, 2]. Associations with neurofibromatosis type 1 (NF-1) and connective tissue disorders like Marfan syndrome have been described [3].In rare instances, lateral meningoceles are a cardinal feature of Lehman syndrome, an autosomal dominant disorder caused by NOTCH3 gene mutations [4]. This syndrome’s phenotype includes distinct craniofacial dysmorphisms, growth deficiency, congenital heart defects, and feeding difficulties [2, 5]. While cognitive impairment and hearing loss have been documented, fewer than half of the 22 reported patients with Lehman syndrome had confirmed loss-of-function NOTCH3 mutations. [5, 6, 7]Here, we report a unique case of bilateral thoracic lateral meningoceles in a 6-month-old infant who presented without clinically apparent syndromic features. This case highlights the importance of including rare spinal anomalies in the differential diagnosis for infants with unexplained recurrent chest infections.

IntroductionBernard-Soulier syndrome (BSS), or hemorrhagiparous thrombocytic dystrophy, is a rare autosomal recessive bleeding disorder caused by genetic mutations affecting the platelet glycoprotein Ib-IX-V complex [1]. This defect impairs platelet adhesion to von Willebrand factor at sites of vascular injury, leading to a severe coagulopathy characterized by prolonged bleeding time, macrothrombocytopenia, and giant platelets on peripheral smear [1]. Clinical manifestations typically include epistaxis, gingival bleeding, and menorrhagia [1]. Due to the presence of thrombocytopenia, BSS is often misdiagnosed as immune thrombocytopenic purpura (ITP), but it is critically distinguished by its lack of response to corticosteroids and the presence of abnormally large platelets [2].While mucocutaneous bleeding is common, hemoptysis is a rare and alarming presentation in BSS, signaling severe underlying pathology [3]. The literature on pulmonary hemorrhage in BSS is sparse and points to two primary etiologies. The first is bleeding secondary to underlying structural lung disease; for instance, a 14-year-old female with BSS was reported to have hemoptysis in the setting of active pulmonary tuberculosis [4]. The second, rarer scenario is hemorrhage intrinsic to the coagulopathy itself, as described in a 46-year-old male who developed diffuse alveolar hemorrhage [3]. Therefore, in a BSS patient presenting with hemoptysis, it is critical to aggressively investigate for an underlying pulmonary trigger.Here, we report the complex case of a 19-year-old male with BSS who presented with life-threatening hemoptysis and a platelet count of 5.59 x 10⁹/L. His presentation was uniquely challenging due to a convergence of three pathologies: the severe intrinsic bleeding risk from BSS, a destructive pulmonary lesion from active tuberculosis for which he was undergoing treatment, and a subsequent fungal superinfection within a tuberculous cavity, confirmed by microbiologic and radiologic findings. The coexistence of this clinical triad—an inherited bleeding disorder complicated by concurrent mycobacterial and fungal infections—created a perfect storm for refractory hemorrhage and presented a profound management dilemma. This report details the successful multidisciplinary strategies used to secure hemostasis and highlights the diagnostic and therapeutic challenges of managing such a rare and complex clinical scenario.

Ruptured Gallbladder