Paroxysmal Tonic Upgaze (PTU) is a paroxysmal movement disorder characterized by episodes of sustained upward deviation of the eyes, which can be misidentified as a seizure. There has been no definite association made between PTU and Down syndrome although Down syndrome has been associated with various other ocular and neurologic conditions. This case report describes three patients with Down syndrome who presented with seizure-like activity and were ultimately diagnosed with PTU. Consideration of PTU in a differential diagnosis, especially in patients with a history of Down syndrome, is essential for accurately distinguishing potentially benign conditions from epilepsy and can help clinicians avoid misdiagnosis and unnecessary treatments.
Pyoderma gangrenosum (PG) is a noninfectious neutrophilic dermatosis that can occur either idiopathically or secondary to various systemic conditions. PG is rare in childhood and even rarer in infancy. Due to its rarity, the pathophysiological mechanisms remain unclear. Although systemic glucocorticoids are considered the first‐line therapy, no standardized second‐line or subsequent therapeutic approach has been established, particularly for refractory cases. In this report, we present a case of infantile idiopathic PG showing sustained clinical improvement after the addition of the anti–tumor necrosis factor (TNF)‐alpha antibody infliximab (IFX). In addition, we conducted multiplex cytokine analysis to explore the patient’s inflammatory profile and provide preliminary observations regarding the inflammatory milieu associated with this condition. The patient, a 9‐month‐old infant, developed multiple pustules and ulcerative skin lesions on the face and extremities following Bacillus Calmette–Guérin (BCG) vaccination. Pathogen investigations were all negative, and the diagnosis of PG was made based on clinical findings, supported by histological features and exclusion of other conditions. After initial treatment with glucocorticoids and cyclosporine, remission was achieved; however, repeated relapses occurred. IFX was subsequently initiated, resulting in significant clinical improvement. Serum cytokine profiling at the onset revealed a broad elevation of proinflammatory cytokines, including soluble TNF receptors 1 and 2, with a pattern partially overlapping with that observed in Kawasaki disease. The clinical course and cytokine analysis results suggest that IFX may be a viable treatment option for refractory PG, even in infants.
Gould syndrome is a rare, inherited syndrome. Its clinical manifestation may necessitate surgical treatment and anesthetic care. We report a case of anesthetic management of elective, bilateral adductor and gracilis tendon release in a child with a diagnosis of Gould syndrome. As there are currently no reports in the medical literature addressing anesthetic conduct for this condition, we discuss the perioperative considerations necessary to anticipate and mitigate potential complications. The syndrome’s diverse presentation, ranging from neurological deficits and seizures to ophthalmic complications and supraventricular arrhythmias, demands a tailored anesthetic approach.
Background Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder of renal water handling, often presenting in early infancy with severe polyuria and hypernatremia. Differentiating CNDI from central diabetes insipidus (CDI) remains challenging, and delayed identification may result in inappropriate therapy, leading to adverse growth and neurodevelopmental outcomes. Case Presentation We present the case of an 8‐month‐old male infant with a history of suspected CDI since birth. He was treated with desmopressin (dDAVP) without clinical benefit. The absence of the posterior pituitary bright spot at magnetic resonance imaging supported the CDI diagnosis. Considering persistent polyuria with recurrent episodes of hypernatremia and low urine osmolality, a diagnosis of CNDI was proposed, and plasma copeptin (CP) levels were determined. Measurement of CP showed markedly increased concentrations, suggesting renal tubular resistance to vasopressin. dDAVP therapy was discontinued and patient’s management was adjusted to include hydrochlorothiazide therapy and a high‐calorie diet restricted in sodium and protein. The patient showed progressive clinical improvement with reduction of polyuria and stabilization of serum sodium levels, although linear growth delay persisted. A final diagnosis of CNDI was confirmed by molecular analysis that identified rare compound heterozygous variants in the AQP2 gene, c.85G > A variant (maternal) and c.553C > G (paternal). Conclusions This case highlights the diagnostic pitfalls of CNDI in infancy and underscores the pivotal role of early CP assessment and molecular genetic testing in distinguishing CNDI from CDI. Prompt recognition of CNDI is essential to avoid ineffective dDAVP therapy and to initiate a targeted multidisciplinary approach. Rare AQP2 mutations further expand the genotypic spectrum of CNDI and emphasize the need for heightened clinical awareness and early referral to specialized centers.
Patent ductus arteriosus (PDA) is the most common cardiac abnormality in premature neonates, and percutaneous, transcatheter occlusion devices are increasingly used for its nonsurgical closure. Even though PDA occluders are safe and effective, they are not without risks. Infective endocarditis (IE), a complication associated with percutaneous occlusion device placement in other congenital heart conditions, has not been described with a PDA occluder. We describe a case of suspected endocarditis in an extremely low birth weight (ELBW) neonate after PDA occluder placement.
