ABSTRACT
We report the case of a Syrian female refugee with late diagnosis of glutaric aciduria type 1 characterised by massive axial hypotonia and quadriplegia who only started adequate diet upon arrival in Switzerland at the age of 4 years, after a strenuous migration journey. Soon after arrival, she died from an unexpected severe upper cervical myelopathy, heralded by acute respiratory distress after a viral infection. This was likely due to repeated strains on her hypotonic neck and precipitated by an orthotopic os odontoideum who led to atlanto-axial subluxation. This case reminds us not to omit handling patients with insufficient postural control and hypotonia with great care to avoid progressive cervical myelopathy.
Subject(s)
Amino Acid Metabolism, Inborn Errors , Brain Diseases, Metabolic , Glutaryl-CoA Dehydrogenase , Odontoid Process , Spinal Cord Diseases , Child, Preschool , Female , Humans , Amino Acid Metabolism, Inborn Errors/complications , Amino Acid Metabolism, Inborn Errors/diagnosis , Glutaryl-CoA Dehydrogenase/deficiency , Muscle HypotoniaABSTRACT
Pediatric chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired immune-mediated disorder of the peripheral nervous system with a number of diagnostic pitfalls. A subset of treatment-resistant CIDP adult patients have been found with antibodies against paranodal proteins. We report the first pediatric case in a 14 year-old adolescent with a severe CIDP phenotype in whom positive anti-neurofascin 155 antibodies were found in his serum. Resistant to conventional therapies, he showed dramatic improvement when treated with Rituximab with mild to moderate functional motor disability at 24 month follow-up. In pediatric CIDP patients that remain refractory to conventional treatments, the presence of antibodies to paranodal proteins warrants investigation as it can have potential therapeutic guidance.
ABSTRACT
Accessory spleen rupture may occur after blunt abdominal trauma or, more rarely, spontaneously. Although only few cases are described in adults, it is even more uncommon in children. We report the case of a 13-year-old boy with traumatic accessory spleen fracture. After a review of the literature, we discuss the diagnostic points that should raise the suspicion for accessory spleen fracture as well as how challenging the diagnosis by computed tomography can be.
Subject(s)
Abdominal Injuries/complications , Choristoma/diagnostic imaging , Spleen/diagnostic imaging , Splenic Rupture/diagnostic imaging , Abdominal Pain/etiology , Accidental Falls , Adolescent , Adult , Female , Humans , Male , Middle Aged , Rupture , Rupture, Spontaneous , Splenic Rupture/etiology , Tomography, X-Ray Computed , Wounds, Nonpenetrating/complicationsABSTRACT
INTRODUCTION: Tuberculosis is a common illness for vulnerable populations in resource-limited settings. Lymph nodes in tuberculosis represent the most frequent extra-pulmonary form of tuberculosis in children, but lymph nodes are rarely generalized and large. We report an atypical pediatric case of tuberculosis with lymphadenopathy. Patient concerns and findings: A two-year-old child with severe acute malnutrition presented with painless, generalized, and excessively large nodes which were not compressive and were without fistula. Main diagnoses, interventions, outcomes: Fine needle aspiration was performed and led to the detection of lymph node granulomatous lymphadenitis suggestive of tuberculosis. CONCLUSION: The child was immediately initiated on anti-tuberculosis therapy with a very successful outcome. Clinicians should be aware of atypical manifestations such as the one we describe in the interest of swift diagnosis and initiation of treatment.
