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Inflammatory bowel disease (IBD) is a chronic disorder of the gastrointestinal tract, with a rising incidence worldwide. It is often associated with numerous extraintestinal manifestations, such as erythema nodosum (EN) and venous thromboembolism (VTE). We report a case of a 17-year-old male seen in a Pediatric consultation due to pain at the inner aspect of the lower left limb associated with bilateral lower limb cutaneous lesions for about a year. A left leg ultrasound revealed signs of phlebitis and the doppler ultrasonography revealed signs of an old occlusive VTE at the level of the great left saphenous vein. Fecal calprotectin was significantly elevated (775 ug/g). Abdominal ultrasound and entero-MRI showed increased thickness of the terminal ileum. Colonoscopy confirmed the diagnosis of Crohn's disease. He began induction treatment with systemic corticosteroids for eight weeks and maintenance treatment with azathioprine. Three months later he was asymptomatic with complete resolution of the erythema nodosum lesions. Extraintestinal manifestations can precede or be concomitant with the diagnosis of IBD and can have a significant impact on the quality of life of these patients. EN is the most common skin manifestation of IBD, with a well-established relationship between these two diseases. Many other extraintestinal manifestations are described, occurring less frequently. The authors aim to bring awareness to the risk of VTE as a rare but non-negligible comorbidity of IBD. This was an uncommon initial presentation of Crohn’s Disease since the patient had never reported any gastrointestinal symptoms. It is important to improve the knowledge of pediatricians about all kinds of extraintestinal manifestations of IBD since they may guide toward the correct diagnosis and allow the prompt initiation of treatment.

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy of the central nervous system characterized by a developmental arrest in myelin formation. It is classified into five phenotypes, with different severity. The most common clinical features are nystagmus, spasticity, tremor, ataxia, and hypotonia. A 11-month-old child was referred to the Neuropediatric Unit due to nystagmus, hypotonia, and developmental delay. Brain magnetic resonance imaging showed signs of diffuse hypomyelination (absence of the T2 low signal in the supratentorial white matter). Molecular analysis revealed a duplication in the PLP1 gene, confirming the diagnosis of PMD. PMD should be considered in infants with nystagmus, hypotonia, and cognitive impairment. Neuroimaging supports the diagnosis, and it should be confirmed by genetic testing. Since no definitive treatment is available, management of this disorder is mainly symptomatic and a multidisciplinary approach for these patients is essential for an improvement in their quality of life.

ResumoA doença de Van Neck-Odelberg (VNO) é uma osteocondrose rara, que acomete a sincondrose isquiopúbica (SIP). Esta entidade deve ser incluída no diagnóstico diferencial de crianças com claudicação na marcha, dor inguinal e limitação funcional do quadril. Imagiologicamente é caracterizada por hipertrofia assimétrica da SIP. Apresentamos o caso clínico de uma criança de 4 anos, previamente saudável, atendida no serviço de emergência devido a dor inguinal no lado esquerdo e claudicação na marcha com início no mesmo dia. Não havia história prévia de trauma ou alteração dos parâmetros inflamatórios. Foi realizada uma radiografia da bacia e ressonância magnética nuclear (RMN) que evidenciou imagem radiopaca de contornos bem definidos no ramo isquiopúbico esquerdo e edema na SIP. Com diagnóstico provável de doença de VNO, o paciente foi medicado sintomaticamente, com resolução completa ao fim de 10 dias. A claudicação na marcha é um motivo frequente de avaliação médica na população pediátrica. Até os 5 anos de idade, as causas mais comuns são sinovite transitória do quadril, artrite séptica e Doença de Legg-Calvé-Perthes. Na ausência de história de trauma ou clínica sugestiva de infeção deverá ser equacionada a hipótese de doença de VNO. Para o seu diagnóstico, é fundamental a realização de radiografia da bacia, cujo achado mais comum é uma opacificação fusiforme unilateral, no nível do ísquion, podendo ser necessária a realização de RMN. O tratamento recomendado é conservador, com recuperação sintomática em 2 semanas. O conhecimento e o diagnóstico desta entidade permitem uma abordagem direcionada e sem a carga emocional para o paciente e seus familiares que outras patologias poderiam transmitir.