Osteoid osteoma of the distal radius presenting as an inconspicuous swelling in a young child.

Osteoid osteoma is a benign osteoblastic tumour with a predilection for the lower extremity that rarely affects the forearm. It is commonly seen in adolescents and young adults, and is seldom diagnosed in the paediatric age group. We report a boy in his early childhood who presented with a swelling over the distal forearm, which was incidentally noted by the mother 3 months ago. Plain radiographs showed diffuse sclerosis of the dorsal cortex of the distal radius. CT scan showed a central lucent nidus in the intramedullary region and surrounding sclerosis in the radial metaphysis, confirming the diagnosis of osteoid osteoma. The patient was successfully treated by surgical en bloc resection of the nidus and was asymptomatic at 1-year follow-up. Non-specific symptoms at presentation make it a challenge to diagnose osteoid osteoma in children and it needs to be considered in the differential diagnosis when radiographs show lytic lesions in the bone.

Pediatric floating knee injuries: Clinical modifiers affecting sports and transfer outcomes.

AIM: This study assessed the functional outcome, and the clinical modifiers that influence them with the aim to assist the clinician plan a better management strategy in Paediatric Floating Knee (PFK) injuries. METHODS: A quasi-prospective, single-center observational study was designed to determine the functional and radiological outcomes in children ( 4 cm of bone loss (p < 0.01) but poor correlation with age at injury (p = 0.5), open fracture (p = 0.17), comminuted femoral and/or tibial fracture patterns (p > 0.05) and loss of soft tissue cover (p = 0.08). CONCLUSIONS: Early recognition of clinical modifiers such as high ISS and bone loss > 4 cm warrants targeted limb reconstruction strategy and can help to prognosticate outcome.

Functional Outcome of Varus Derotation Osteotomy in Legg-Calve-Perthes Disease: Can It Be Justified in Late-Presenting Disease?

BACKGROUND: Legg-Calve-Perthes disease (LCPD) in children older than seven years has often been associated with accelerated progress and poor outcome. The results of varus derotation osteotomy (VDRO) of the proximal femur in this cohort are not consistently predictable. This study was aimed at assessing the functional outcome of VDRO for hip containment in children with late-presenting LCPD. MATERIALS AND METHODS: A quasi-prospective observational study was conducted to determine the functional outcomes of children with late-presenting unilateral LCPD who underwent VDRO between 2016 and 2021, with a minimum follow-up of two years. A retrospective chart review followed by a patient/parent-reported outcome measure using the Paediatric Outcome Data Collection Instrument (PODCI) was utilised. RESULTS: Thirteen children were included in this study, with a mean age of 8.30 years (range: 7-12 years; SD: -1.493). Three children were in the early stages of the disease, modified Elizabethtown I and IIA (1 and 2, respectively). The majority of the children were in Stage IIB of the modified Elizabethtown staging (n=6), followed by Stage IIIA (n=4). The two children presenting in Stage IV of the disease were excluded from the analysis. The mean standardised and normative PODCI scores for transfer and mobility were 98.23 and 48.03, respectively. The mean standardised and normative PODCI scores for sports and physical were 93.15 and 49.76, respectively. Neither of the scores showed a statistically significant difference between the late and early stages of the disease (Transfer and Basic Mobility Scale: Standardised (p=0.273), Normative (p=0.268); Sports and Physical Functioning Scale: Standardised (p=0.618), Normative (p=0.631)). However, a higher mean PODCI score was noted for the early stages. There was no statistically significant difference between the median score and the duration since surgery. However, there was a moderate negative correlation between the time scores and the times since surgery for the late stages of the disease, viz. Stage IIB and IIIA (Transfer and Basic Mobility Scale: Standardised (-0.445), Normative (-0.450); Sports and Physical Functioning Scale: Standardised (-0.228), Normative (-0.228)). This correlation, however, did not reach a statistical significance. CONCLUSION: VDRO can be regarded as a functionally rewarding option for femoral head containment in late-presenting LCPD across the evolutionary stages of the disease.

A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.

Anencephaly (APH) is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to APH. APH shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of APH has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C > A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive APH in an Indian family. The TRIM36 gene is expressed in the developing brain, suggesting a role in neurogenesis. In silico analysis showed that proline at codon position 508 is highly conserved in 26 vertebrate species, and the mutation is predicted to affect the conformation of the B30.2/SPRY domain of TRIM36. Both in vitro and in vivo results showed that the mutation renders the TRIM36 protein less stable. TRIM36 is known to associate with microtubules. Transient expression of the mutant TRIM36 in HeLa and LN229 cells resulted in microtubule disruption, disorganized spindles, loosely arranged chromosomes, multiple spindles, abnormal cytokinesis, reduced cell proliferation and increased apoptosis as compared with cells transfected with its wild-type counterpart. The siRNA knock down of TRIM36 in HeLa and LN229 cells also led to reduced cell proliferation and increased apoptosis. We suggest that microtubule disruption and disorganized spindles mediated by mutant TRIM36 affect neural cell proliferation during neural tube formation, leading to APH.

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

PURPOSE: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene. METHODS: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations. RESULTS: DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families. CONCLUSIONS: This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.

The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were collected from members of both families and used in genomic DNA isolation. The entire coding regions and intron-exon junctions of the ES gene CHRNG (cholinergic receptor, nicotinic, gamma), and two other related genes, CHRND and CHRNA1, were amplified and sequenced to search for mutations in both families. Both families show a typical form of ES. Sequencing of the entire coding regions including the intron-exon junctions of the three genes did not yield any mutations in these families. In conclusion, it is possible that the mutations in these genes are located in the promoter or deep intronic regions that we failed to identify or the ES in these families is caused by mutations in a different gene. The lack of mutations in CHRNG has also been reported in several families, suggesting the possibility of at least one more gene for this syndrome.