Case Reports in Pediatrics最新文献

[This corrects the article DOI: 10.1155/crpe/2294523.].

Background: Fibrous hamartoma of infancy (FHI) is a rare benign tumor typically found in the axilla or trunk. Distal extremity involvement is exceptional. We present the first documented case of FHI of the hand in the Philippine literature, highlighting the conflict between oncologic clearance and functional preservation.

Case presentation: A 7-month-old male presented with an enlarging hypothenar mass. Initial ultrasonography revealed a heterogenous mass with intralesional cystic spaces, leading to a misdiagnosis of hemangioma despite the absence of significant flow on Doppler interrogation. Propranolol treatment failed. MRI revealed a poorly encapsulated mass encasing muscles, raising suspicion for malignancy. Intraoperatively, the tumor appeared as matted tissue with nondelineated borders, encroaching on neurovascular structures. To preserve hand function, a subtotal excision was performed rather than radical en bloc removal. Histopathology confirmed the triphasic components diagnostic of FHI.

Conclusion: Local recurrence was noted 6 months postoperatively before the patient was lost to follow-up. This case underscores the diagnostic challenge of FHI in the hand due to vascular mimicry. Furthermore, the tumor's infiltrative nature in complex anatomy forces a difficult trade-off: Radical excision offers cure but risks functional devastation, whereas functional preservation carries a high risk of recurrence.

Background: Aplasia cutis congenita (ACC) is a rare developmental anomaly characterized by the absence of skin at birth. Type V ACC is a distinct subtype associated with fetus papyraceus-the compressed remnant of a deceased co-twin-and typically manifests as symmetrical, linear, or stellate lesions involving the trunk and proximal extremities. The proposed mechanism involves ischemic or thromboembolic injury to the surviving twin due to shared placental circulation.

Case presentation: We describe a 30-day-old female neonate, the surviving twin of a dichorionic gestation, whose co-twin was delivered as a fetus papyraceus. The patient presented with extensive, bilaterally symmetrical, linear, and plaque-like areas of absent skin involving the anterior and posterior trunk. No scalp, limb, or mucosal involvement was observed. Systemic examination and laboratory workup were unremarkable. Based on the characteristic lesion pattern and obstetric history, a diagnosis of type V ACC was established. The patient was treated conservatively with topical calcipotriol and meticulous wound care, leading to progressive re-epithelialization and residual atrophic scarring.

Conclusion: This case illustrates the classic presentation of type V ACC associated with fetus papyraceus and supports the vascular disruption hypothesis as the predominant pathogenic mechanism. Awareness of this rare entity facilitates early diagnosis, appropriate conservative management, and accurate counseling of parents regarding the excellent prognosis and low recurrence risk.

Background: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by PRG4 mutations that impair lubricin production. Resulting noninflammatory hyperplasia produces congenital or early-onset camptodactyly and noninflammatory arthropathy, affecting large joints. Because clinical features overlap with trigger finger and juvenile idiopathic arthritis (JIA), misdiagnosis is common.

Case presentation: We describe the second genetically confirmed Brazilian case of CACP, involving two siblings. Both showed congenital trigger fingers (later reclassified as camptodactyly) and developed painless, cold swelling of large joints, initially labeled JIA. Laboratory tests showed normal inflammatory markers, and synovial fluid revealed low white cell counts. Imaging demonstrated joint effusion and synovial debris without inflammatory signs. Whole-genome sequencing identified a homozygous c.3756dup mutation in the PRG4 gene, introducing a premature stop codon and truncating lubricin.

Conclusion: This report highlights the importance of recognizing CACP syndrome by identifying distinctive clinical, laboratory, and imaging characteristics, notably congenital camptodactyly and noninflammatory joint swelling, to prevent misdiagnosis and guide supportive management.

We report an 11-year-old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole-exome trio sequencing during his short-stature evaluation. His medical history is remarkable for congenital jejunal atresia diagnosed prenatally and repaired surgically shortly after birth. Notably, he lacks genitourinary anomalies, which are frequently described in individuals with PPP1R12A-related urogenital and brain malformation syndrome (UBMS). An endocrine evaluation revealed growth hormone deficiency with an ectopic posterior pituitary gland and an interrupted pituitary stalk. Despite these findings, his neurodevelopment is advanced compared to peers without any concern for intellectual disability. His most recent gastrointestinal and nutritional workup was normal, and he is demonstrating excellent linear growth and response to somatropin therapy. This case broadens the phenotypic spectrum associated with PPP1R12A mutations by highlighting isolated growth hormone deficiency and jejunal atresia in the absence of genitourinary and neurodevelopmental anomalies. We emphasize the importance of multidisciplinary monitoring and an early endocrine referral in patients with PPP1R12A variants presenting with short stature.

Introduction: Acute mastoiditis, a complication of acute otitis media (AOM), remains a concern in children despite vaccines and antibiotics. Serious complications like cerebral venous sinus thrombosis (CVST) can be life-threatening.

Case presentation: A 4-year-old girl with fever, vomiting, and ear pain worsened despite amoxicillin treatment, developing headache, neck stiffness, and drowsiness. An ENT examination showed thickened tympanic membranes. Neurological symptoms, including headache, drowsiness, and neck stiffness, prompted lumbar puncture and initiation of ceftriaxone, with elevated CRP and leukocytosis supporting the clinical suspicion. Imaging confirmed otomastoiditis with epidural extension and CVST. MRI confirmed intracranial complications, prompting anticoagulation. She underwent mastoidectomy and tympanostomy tube placement, recovering well.

Conclusion: Early imaging and multidisciplinary management are essential to prevent neurologic complications in children with mastoiditis.

Purpose: To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder.

Observation: A 4-month-old female presented with subtle, roving eyes that were initially attributed to normal development. A subsequent evaluation by a pediatric ophthalmologist, prompted by a high index of suspicion, confirmed the findings of nystagmus, mild foveal hypoplasia, and astigmatism. Genetic testing confirmed the presence of pathological variants of the OCA2 gene, leading to a diagnosis of oculocutaneous albinism.

Conclusion and importance: This case highlights the importance of a meticulous ophthalmologic examination and a high index of suspicion in pediatric care. The early finding of nystagmus can be the key to a timely diagnosis of OCA2. This allows for early intervention to optimize visual development and allows for multidisciplinary management and genetic counseling for the family. This case underscores the need for ongoing education in enhancing the early detection of OCA.

Infants with severe hyponatremia (Na < 120) and an abdominal mass require an astute clinical evaluation and often represent a medical emergency. We report a case of a 2-month-old White female, born full term, presenting with a two-day history of decreased oral intake and urinary output, who was found to have severe hyponatremia with notable abdominal distention. Abdominal imaging revealed the presence of a pelvic mass causing obstructive uropathy. Further imaging and urogenital examination revealed a hydrometrocolpos. This rare entity required urgent surgical intervention and standard supportive care in the PICU. She had a subsequent significant improvement in symptoms and prevention of further deleterious complications.

Background: Congenital tuberculosis (TB) is a rare but often fatal condition, particularly in preterm neonates within high-burden regions like the Democratic Republic of Congo (DRC). Diagnosis is complicated by nonspecific symptoms and resource limitations, with maternal critical illness further delaying detection and increasing vertical transmission risk.

Case presentation: This case report details a preterm male infant (30 weeks' gestation) born vaginally to an HIV-negative mother who experienced a 2-month coma during pregnancy in the DRC. The neonate presented at 3 weeks with cervical lymphadenopathy, respiratory distress, and failure to thrive. Initial sepsis treatment with antibiotics failed. Postpartum maternal sputum testing confirmed pulmonary TB. Neonatal lymph node biopsy revealed caseating granulomas, and GeneXpert MTB/RIF confirmed Mycobacterium tuberculosis infection. The infant received weight-adjusted antitubercular therapy (rifampicin, isoniazid, and pyrazinamide), leading to progressive clinical improvement.

Conclusion: This case underscores congenital TB as a critical differential diagnosis in preterm infants with lymphadenopathy born to critically ill mothers in TB-endemic areas. Maternal coma-a likely indicator of disseminated TB-masked symptoms, delayed diagnosis, and amplified transmission risk. The report advocates for integrating routine TB screening into antenatal care protocols for all critically ill pregnant women in high-burden settings, irrespective of overt respiratory symptoms. Early maternal diagnosis and prompt neonatal treatment are essential to reduce mortality in this vulnerable population. Enhanced screening in high-risk pregnancies represents an urgent public health priority for mitigating vertical TB transmission in resource-limited contexts.

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children. Among its various multisystem manifestations, JDM-associated interstitial lung disease (JDM-ILD) can cause significant disability and mortality. Data on the management of JDM-ILD are limited. However, rituximab can be an effective and safe option not only for refractory cases but also for initial treatment. We report the case of a three-year-old girl with JDM-ILD. The patient had a four-month history of progressive muscle weakness and rash. On admission, she presented with major skin involvement and decreased muscle strength. Laboratory tests revealed mild normocytic anemia and elevated lactate dehydrogenase levels. She was positive for Antitranscription intermediary factor 1-gamma antibody (TIF1-γ). Whole-body magnetic resonance imaging confirmed typical muscle involvement. High-resolution computed tomography of the chest revealed JDM-ILD with a nonspecific interstitial pneumonia pattern, affecting approximately 30% of the lung volume. The treatment included methylprednisolone pulses, intravenous immunoglobulins, and methotrexate. Due to evidence of severe disease with a high risk of mortality, rituximab was also administered. The treatment was well tolerated. During follow-up visits, normalization of muscle strength and reduction in skin and lung involvement were observed. As demonstrated in the presented patient, rituximab can be considered an early intervention in cases of severe, life-threatening manifestations of JDM, such as JDM-ILD. Importantly, the treatment was not related to any significant adverse events.