Forensic age estimation in living children: how accurate is the Greulich-Pyle method in Sabah, East Malaysia?

Background: The Greulich and Pyle's Radiographic Atlas of Skeletal Development of the Hand and Wrist (GP Atlas) is the most widely used method of determining the bone age (BA) of a child. It is also a widely accepted method for forensic age determination. As there is limited local bone age data for forensic age estimation, the purpose of this study was to assess the accuracy of the GP Atlas for forensic age determination in living Sabahan children. Method: This study recruited 182 children between the ages of 9 years to 18 years. BA estimation of the left-hand anteroposterior radiographs were performed by two experienced radiologists using the Greulich-Pyle method. Results: The BA estimates from two radiologists had very high interobserver reliability (ICC 0.937) and a strong positive interobserver correlation (r > 0.90). The GP method, significantly and consistently underestimated chronological age (CA) by 0.7, 0.6 and 0.7 years in overall children, boys and girls respectively with minimal errors. Mean absolute error and root of mean squared error for overall children was 1.5 and 2.2 years respectively, while mean absolute percentage error was 11.6%. This underestimation was consistent across all age groups but was statistically significant only at 13-13.9 and 17-18.9 years old age groups. Conclusion: Despite high interobserver reliability of BA estimation using the GP Atlas, this method consistently underestimates the age of the child in all children to a significant degree, for both boys and girls across all age groups, with an acceptably low level of error metrics. Our findings suggest that locally validated GP Atlas or other type of assessments (artificial intelligence or machine learning) are needed for assessment of BA to accurately predict CA, since current GP Atlas standards significantly underestimated chronological age with minimal error for children in Sabah. A larger population-based study would be necessary for establishing a validated atlas of a bone age in Malaysia.

Plexiform neurofibromatosis with peripheral malignant nerve sheath tumor and scoliosis - more surveillance imaging needed?

Malignant peripheral nerve sheath tumors (MPNSTs) are rare but aggressive neoplasms associated with neurofibromatosis type 1. Specifically, children with deep plexiform neurofibromas are 18 times more likely to develop MPNSTs compared to the general population. However, there is currently no standard surveillance imaging protocol for children diagnosed with deep plexiform neurofibromatosis. We present a case of a boy with neurofibromatosis type 1 and scoliosis, who later developed MPNST. This case highlights the need for more frequent surveillance imaging and the challenges of diagnosing MPNST in a patient with scoliosis. In order to facilitate early detection of malignant transformation, we suggest annual surveillance MR imaging for patients known to have deep plexiform neurofibromatosis.

Torsed wandering spleen as a cause of recurrent abdominal pain in a child.

Wandering spleen is an uncommon cause of acute abdomen in children. Diagnosis of this condition is challenging due to its non-specific symptoms, varying intensity and protracted history of presentation. Radiographs and ultrasound imaging provide rapid and reliable means to diagnose this condition without exposure to excessive radiation. We present a case of a torsed wandering spleen in a child with recurrent abdominal pain. We highlight the role of imaging in identifying salient radiographic and sonographic signs for diagnosis.

Missed tuberous sclerosis complex with multi-system complications in a single patient.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread clinical manifestations. Early diagnosis is usually possible when typical TSC related skin lesions and neurologic presentations are detected in young patients. Undiagnosed TSC patients are at increased risk of morbidity and mortality as disease progression will inevitably lead to complications. While case reports of single complications in pediatric patients have been documented, to the best of our knowledge, multi-system complications of TSC in adults have yet to be reported in the literature. We present a case of tuberous sclerosis diagnosed in adulthood with complications involving the central nervous, renal and respiratory systems. This case highlights the need for a multidisciplinary approach in the management of TSC as well as the role of imaging in both diagnosis and intervention.

Case Report: Unusual High-Grade Diffuse Leptomeningeal Glioneuronal Tumor Mimicking Tuberculous Meningitis in a Child From an Endemic Region.

Background: Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a new entity described in the 2016 World Health Organization (WHO) classification of brain tumors. While DL-GNT is predominantly an indolent tumor that affects young boys, high-grade DL-GNT is unusual and seldom reported in children. Case Presentation: In this report, we describe the challenges and pitfalls associated with diagnosing this high-grade variant in a tuberculosis-endemic region. We highlight the importance of identifying non-typical imaging findings, i.e., non-enhancing cystic lesions with high T2 signal along the leptomeningeal surface, that may expedite the diagnosis of this condition. Histopathologic correlations with MR spectroscopy findings are also discussed. Conclusion: We provide the first clinical imaging report of utilizing MR spectroscopy to distinguish DL-GNT from tuberculosis with histopathologic correlation.

Skeletal manifestations of congenital syphilis: Rare but clinically relevant.

Congenital syphilis occurs as a result of maternal transmission of treponema pallidum in utero. This condition is mainly diagnosed by treponemal and non-treponemal serologic tests. However, both maternal nontreponemal and treponemal IgG antibodies can be transferred through the placenta to the fetus, thus complicating its interpretation soon after birth. We report a case of a neonate with congenital syphilis whose mother became infected after the first trimester of pregnancy. We report how skeletal radiographs expedite the clinical decision-making process and direct further management of neonates. This case also highlights the need for repeated syphilis screening in the latter part of pregnancy.

MR imaging of hypothalamic hamartoma in a patient with gelastic seizures.

Hypothalamic hamartomas (HHs) are non-neoplastic malformations that occur in the region of the hypothalamus. HH is the leading cause of gelastic seizures in children and adolescents, where laughing is characteristically manifested. However, these patients can also experience different forms of complex or generalized tonic-clonic seizures that can obscure the diagnosis of HHs. We present a case of a 10 year-old boy that experienced several seizure types, but was subsequently diagnosed with HH after MR imaging was performed. This case highlights the complementary role of MR imaging in ascertaining seizure etiololgy when the clinical history and EEG findings are non-specific. The importance of early diagnosis with MR imaging is further underscored by the fact that patients diagnosed with HH usually develop drug resistance towards antiepileptic drugs, mandating neurosurgical assessment and intervention.

Wilms tumor presenting as small bowel obstruction in a neonate: A diagnostic challenge.

Wilms tumor is the most common primary malignant renal tumor of childhood which usually presents between 2 and 6 years of age. Its presentation in the neonatal period is extremely rare and presenting with intestinal obstruction is perhaps unknown. We report a 2-day-old baby girl who manifested features of acute upper gastrointestinal obstruction with frequent post-feeding vomiting and abdominal distension. The initial abdominal radiograph showed abnormally displayed small bowel loops to the right hemiabdomen. Subsequent ultrasound and computed tomography scan of the abdomen detected a massive left renal mass. Left-sided nephrectomy was performed, and histopathology demonstrated left-sided Wilms tumor with favorable histology. Post-treatment yearly follow-up for 5 years recorded a disease-free, normally thriving child.

Rare late-presentation congenital diaphragmatic hernia mimicking a tension pneumothorax.

Congenital Diaphragmatic Hernia (CDH) is due to a defect in the diaphragm and is usually detected soon after birth. However, in rare cases, asymptomatic CDHs can be missed and present later in life. Late-presentation CDH can be misdiagnosed as tension pneumothorax leading to iatrogenic complications. We report a case of a 10-year-old boy who presented with non-specific symptoms of vomiting and occasional breathlessness, but was subsequently diagnosed as late-presentation CDH. This case highlights the role of imaging in the diagnosis and management of late-presenting CDH. The role of CT imaging as an invaluable tool to further evaluate equivocal radiographic findings in CDH is discussed.

CT findings of congenital neonatal pyriform aperture stenosis.

Congenital neonatal pyriform aperture stenosis (CNPAS) is a rare but potentially lethal condition that causes respiratory distress. The characteristic narrowing of the pyriform aperture along with other associated craniofacial dysmorphism is diagnosed using cross-sectional imaging such as computed tomography (CT) and magnetic resonance imaging. CT scan is the imaging of choice for confirming and characterizing CNPAS. Infants are obligate nasal breathers in the first 5 months of life. Hence, a high degree of clinical suspicion, prompt imaging diagnosis and adequate respiratory support is critical to help reduce the morbidity of this condition.

Case report: Ballotable abdominal mass in a child - Definitely renal in origin?

INTRODUCTION AND IMPORTANCE: The differential diagnosis of a paediatric abdominal mass can be extensive, as it potentially involves multiple organs including gastrointestinal, genitourinary, endocrine, and gynaecological systems. Hence, a systematic approach to history taking and physical examination is needed to clinch the diagnosis. Specifically, the approach for assessing, investigating, and managing a ballotable left hypochondrial mass in a child can be challenging. CASE PRESENTATION: We report a 10-year-old Dusun girl presenting with left hypochondrial pain and noted a left hypochondrial mass on examination. This report highlights the role of clinical imaging during the pre-operative and post-operative phases. CLINICAL DISCUSSION: Ultrasound and CT imaging was useful in determining that the tumor originated from the tail of the pancreas. The presence of a definite capsule with internal solid-cystic components helped narrowed the differential diagnosis to solid pseudopapillary neoplasm (SPN) of the pancreas. MR liver was useful to rule out liver metastasis in this child. INTERVENTION AND OUTCOME: The patient was scheduled for laparotomy and tumour excision at a regional paediatric centre. Successful excision of the tumor en-mass was performed and the child's subsequent recovery was uneventful. CONCLUSION: Clinical imaging plays a critical role in the diagnosis and management of paediatric solid organ tumours. Other than renal origin, suspicion of pancreatic tail origin should be considered by clinicians when encountering a ballotable left abdominal mass.