Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.

A Sri Lankan male child with supraorbital hyperostosis, broad nasal bridge, small mandible, severe kyphoscoliosis, distal joint contractures of the hands and long second and third toes is described. A hemizygous pathogenic variant in exon 22 of the filamin A (FLNA) gene [NM_001110556.1: c.3557C>T; which leads to a nonsynonymous substitution of serine by leucine at codon 1186 in the FLNA protein; NP_001104026.1: p.Ser1186Leu] was identified. The clinical features observed in this patient were consistent with the cardinal manifestations seen in frontometaphyseal dysplasia 1 (FMD1). However, characteristic extra skeletal manifestations such as cardiac defects, uropathy, and hearing impairment which have previously been reported in association with this condition were absent in this patient.

Mutations in ANTXR1 cause GAPO syndrome.

The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [p.Arg88*] and c.505C>T [p.Arg169*]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs*119]) in ANTXR1, which encodes anthrax toxin receptor 1. The nonsense mutations predictably trigger nonsense-mediated mRNA decay, resulting in the loss of ANTXR1. The transcript with the splicing mutation theoretically encodes a truncated ANTXR1 containing a neopeptide composed of 118 unique amino acids in its C terminus. GAPO syndrome's major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation. Thus, we propose that mutations affecting ANTXR1 function are responsible for this disease's characteristic generalized defect in extracellular-matrix homeostasis.

Two Sri Lankan cases of identified sea snake bites, without envenoming.

Sea snakes are among the most venomous creatures encountered around coasts and reefs, in estuaries, rivers and at sea. Their venoms are more toxic than those of land snakes. However, they are rarely aggressive or menacing. Bites have become unusual with the advent of modern fishing methods but the two encounters we report, in the Indian Ocean off the shores of Sri Lanka, emphasise that sea snake bites may not result in envenoming.

Panel 2.10: reproductive, mental, and child health.

This is a summary of the presentations and discussion of Panel 2.10, Reproductive, Mental, and Child Health of the Conference, Health Aspects of the Tsunami Disaster in Asia, convened by the World Health Organization (WHO) in Phuket, Thailand, 04-06 May 2005. The topics discussed included issues related to reproductive, mental, and child health as pertain to the responses to the damage created by the Tsunami. It is presented in the following major sections: (1) background; (2) key issues; (3) discussion; and (4) recommendations. Key issues discussed included: (1) coordination/collaboration; (2) provision of services; and (3) raising awareness and advocacy.

Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency.

Although neonatal vaccination with bacille Calmette-Guérin (BCG) is considered to be safe, complications with disseminated disease are associated with underlying immuno-deficiency disorders. A BCG-vaccinated 4-month-old girl of Sri Lankan parentage developed progressive left axillary lymphadenopathy and severe bronchopneumonia. Lymph node biopsy demonstrated epithelioid granulomata and acid-fast bacilli. An older sibling had had a similar clinical presentation and the outcome had been fatal. Investigation for immuno-deficiency detected complete IL12RB1 deficiency. Full recovery followed a prolonged course of anti-tuberculous chemotherapy. She was put on lifelong isoniazid prophylaxis. In HIV-negative infants with unusual complications related to BCG vaccination, a primary immuno-deficiency disorder should be considered.

A child presenting with tuberculous spondylitis in a single third cervical vertebra: a case report.

INTRODUCTION: Despite a global reduction in tuberculosis, extrapulmonary tuberculosis is increasing. Spinal tuberculosis remains the commonest form of skeletal tuberculosis. Cervical spine involvement is rare but is the most dangerous form because of diagnostic difficulties and serious residual disability. We report a child who had single vertebral involvement of her third cervical vertebra which is extremely rare. To the best of our knowledge isolated third cervical vertebra involvement in a child by tuberculosis has not been reported previously. Difficulties in obtaining material for histology and bacterial culture from this critical location and how the diagnosis was reached despite these challenges are highlighted. CASE PRESENTATION: A 10-year-old Sinhalese girl developed painful torticollis and 'cries during sleep'. She had received Bacillus Calmette-Guérin vaccine at birth, was well nourished, and had no loss of weight, anorexia or contact with tuberculosis. A plain radiograph of her neck showed a collapsed third cervical vertebra with no disc involvement. Magnetic resonance imaging confirmed isolated destruction of third cervical vertebra associated with prevertebral soft tissue swelling indenting the thecal sac without cord compression. Her chest radiograph was normal. There was peripheral lymphocytosis, elevated erythrocyte sedimentation rate, negative tuberculin (Mantoux) test, and negative QuantiFERON®-TB GoldIn-Tube assay. Invasive procedures to obtain tissue for histology, smear or culture were perceived by parents as dangerous due to surrounding critical structures and consent was denied. The differential diagnosis included spinal tuberculosis and unifocal Langerhan cell histiocytosis. Nocturnal symptoms and the prevertebral collection of soft tissue ('cold abscess') were characteristic of tuberculosis, and nonspecific findings of elevated erythrocyte sedimentation rate and lymphocytosis supported this diagnosis. An incidental finding of a calcified hepatic nodule when evaluating for multifocal histiocytosis was presumed to be tuberculous because schistosomiasis and visceral leishmaniasis were extremely rare in her country of residence, Sri Lanka. Empirical treatment with a 12-month course of antitubercular therapy resulted in clinical recovery and radiological healing. There was no kyphosis or neurological sequel. CONCLUSIONS: This report highlights to clinicians the value of a high index of suspicion and careful history taking in spinal tuberculosis; and how a combination of nonspecific findings helped reach a clinicoradiological diagnosis.

Persistent lingual ulceration (Riga-Fede disease) in an infant with Down syndrome and natal teeth: a case report.

INTRODUCTION: Riga-Fede disease is a rare pediatric condition in which chronic lingual ulceration results from repetitive trauma. Neonatal teeth or underlying neuro-developmental disorders which include Down syndrome are described as causative factors, but to the best of our knowledge, this is the first case report of both Down syndrome and natal teeth coexisting. The need for early extraction in the presence of two risk factors is highlighted in this case report. CASE PRESENTATION: An 18-month-old Sinhalese male presented with an ulcerating lingual mass on the ventral surface of the tongue. The lesion had progressed over the past six months. He also had clinically diagnosed Down syndrome.The ulcer was non-tender, indurated, and had elevated margins. It was not bleeding and two natal teeth in lower central dentition were seen in apposition with the lesion. There was no regional lymphadenopathy but the ulcer was causing concerns as it mimicked a malignant lesion. A clinical diagnosis of Riga-Fede disease caused by raking movements of the tongue against anterior natal teeth by a child who was developmentally delayed and prone to suck on his tongue was made. The mother was reassured and the natal teeth were extracted. CONCLUSIONS: Early extraction of natal teeth is recommended only if there is a risk of aspiration or interference with breast feeding. Although Down syndrome is among the neuro-developmental conditions that lead to this lesion, its occurrence is usually at an older age. The presence of natal teeth together with Down syndrome caused the lesion to occur in infancy. Awareness of the benign nature of this rare condition by pediatricians and dental practitioners is important as it will allay anxiety and avoid unnecessary biopsy. This case also highlights the impact of two risk factors and needs consideration as an added indication for the early extraction of natal teeth.

Acute appendicitis complicated by mass formation occurring simultaneously with serologically proven dengue fever: a case report.

INTRODUCTION: Acute abdomen and acute appendicitis are unusual clinical presentations that occur in dengue infection-caused illness. Lymphoid hyperplasia and mesenteric adenitis are possible explanations, although vasculitis in the pathology of dengue infection has not been reported. Authors of previous case reports have described mimicking of acute appendicitis discovered upon surgical treatment. Dengue virus has not been proven to cause acute appendicitis. CASE PRESENTATION: We report a case of an 8-year-old Sinhalese boy who developed acute appendicitis during the acute phase of serologically confirmed dengue fever. Although abdominal pain, vomiting and right-sided tenderness were present at the time of admission, a diagnosis of acute appendicitis was considered only 18 hours later, when abdominal guarding and a well-defined mass in the right iliac fossa were detected clinically and ultrasonographically. Conservative management with intravenous antibiotics was successful. CONCLUSION: In areas where dengue is endemic, awareness of dengue viral infection as a non-surgical cause of acute abdomen, as well as its ability to mimic acute appendicitis, is important because unnecessary surgery-related morbidity can be decreased. However, delaying or missing the diagnosis of acute appendicitis can result in serious complications. This message is particularly relevant to clinicians, especially pediatricians and surgeons, who encounter large numbers of patients during dengue epidemics and run the risk of missing the diagnosis of acute appendicitis. Likewise, delaying or missing the diagnosis of dengue hemorrhagic fever can lead to dengue shock syndrome and even death. This case highlights the need for careful evaluation of each patient who presents with acute abdomen and dengue infection.

Ocular and subcutaneous dirofilariasis in a Sri Lankan infant: an environmental hazard caused by dogs and mosquitoes.

An 11-month-old infant presented with a subcutaneous nodule in the right cheek which was found by ultrasonography to be a worm. Following treatment with di-ethylcarbamazine, a worm emerged from the left upper eyelid which was confirmed to be Dirofilaria repens. Dirofilariasis usually manifests as a single lesion and is rare in infants.