Henoch–Schönlein purpura is a small vessel vasculitis that usually presents with palpable purpura, arthritis, abdominal pain, and nephritis. Subcutaneous oedema of dependent areas is common; however, oedema in the scalp is extremely rare especially in children older than two years. Here, we report a child with massive disfiguring scalp and facial oedema due to Henoch–Schönlein purpura. An eight-year-old boy presented with characteristic palpable purpuric rash and extensive disfiguring scalp and facial swelling for five days. He complained of blurred vision, vomiting, and severe headache on the day of admission. Examination revealed an ill child with extensive oedema of the face and scalp that was tender on palpation. His blood pressure was above the 99th percentile, and he had exaggerated deep tendon reflexes and extensor plantar responses. All biochemical investigations including renal function tests were normal. Noncontrast CT head showed normal brain, with marked soft tissue swelling of the scalp. Ultrasonography showed soft tissue oedema within and surrounding facial muscles without evidence of neck vessel compression. Urine analysis revealed microscopic haematuria on day 14 of the illness, and immunohistochemical staining of renal biopsy confirmed Henoch–Schönlein purpura nephritis. In conclusion, this case report presents a child with severe, disfiguring scalp and facial oedema due to Henoch–Schönlein purpura. It highlights that severe subcutaneous oedema of Henoch–Schönlein purpura can involve any part of the body not limiting to dependent areas.

Background Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B12 deficiency and proteinuria. Case presentation A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B12 and red blood cell folate levels were low. MRI revealed sub-acute combined degeneration of the spinal cord with characteristic ‘inverted V sign’. Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Gräsbeck syndrome was made due to the presence of non-nutritional vitamin B12 deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin. Conclusions This case report presents a rare occurrence of severe vitamin B12 deficiency due to Imerslund-Gräsbeck syndrome masked by co-existent α-thalassaemia, resulting in serious consequences. It highlights the need for a high index of suspicion in evaluating children with severe anaemia, especially in the presence of mixed pathologies.

ESSENTIAL atrophy of the iris is a rare clinico-pathological entity; its aetiology is ill-understood, almost all cases reported have been unilateral, and treatment is of no avail. We report this case not only because it is rare, but also because bilateral cases are rarer still. This case, which appears to be closely allied to buphthalmos, like that of Barkan which was also bilateral (Duke-Elder, 1940), also appears to shed some light on the probable aetiology of this condition. Case ReportA male farmer, aged 26, was admitted to hospital on July 20, 1954, with a history of progressive blindness. The left eye had been blind for 3 years and the right for 3 months. Neither redness of the eyes nor ocuiar pain was a featuie of his illness. A slowly progressing baldness was the only extra-ocular complaint-this he had noticed for 5 years.Family History.-Two brothers and parents healthy. Examination.-A healthy muscular individual whose only extra-ocular defect was baldness of the frontal area of the scalp with inroads to the vertex. The skin over these areas was of normal texture; the hair, which was predominantiy black, was brownish over the vertex, and was greying at the sides. The Wassermann reaction was negative.Ophthalmic Investigation.-Both eyes were buphthalmic and executed a series of fine nystagmoid movements in the horizontal direction. Vision in each was perception of light. The corneal diameters were: Right horizontal 14 mm., vertical 13mm.; left hoiizontal 14 mm., vertical 14 mm.The ocular tension was 26 mm. Hg (Schiotz) in the right eye with pressule of 7 5 and 10 mg., and 44 and 37 mm. Hg (Schiotz) in the left eye. The left cornea was cloudy because of oedema of the epithelium and substantia propria. The anterior chambers were deep. The irides (Figs 1 and 2, overleaf) showed two shades of brown pigmentation, the paler areas having a washed-out appearance; there were multiple holes-pseudopolycoria. The pupils were eccentiic and ectropion uveae delineated their borders. Strands of atrophic iris tissue showing lines of traction radiated from the pupils. No contraction furrows, crypts or collarettes were seen. The irides looked as though they had been ironed out. The left iris was tremulous opposite the three holes below the pupil (Fig. 2). The pupils reacted sluggishly to light. There were no keratic precipitates or deposits of iris pigment on the back of the cornea.Through the slight dilatation that could be effected with homatropine 2 per cent. drops, the lenses were seen to be sclerosed but the fundi could not be seen.

Background McCune-Albright syndrome (MAS) with a prevalence between 1 in 100,000 to 1in 1,000,000 has a clinical spectrum characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait spots, and precocious puberty (1–5). Gonadotrophin Independent Precocious Puberty (GIPP) is a prominent hyperfunctioning endocrinopathy and is frequently the presenting feature (10). Here we report four cases of MAS who are actively being followed up in a leading Children’s Hospital in Sri Lanka.Case presentation In our cohort of 4 patients, 2 patients are boys, patient 1 and 2respectively. Patient 1 initially presented with features of polyostotic fibrous dysplasia and found to have GIPP at the age of 7 years and started on Spironolactone. He also has hyperprolactinemia, growth hormone excess and hypophosphatemic rickets. Patient 2 presented with polyostotic fibrous dysplasia but developed GIPP two years after diagnosis and started on Letrozole. Additionally, he has hypophosphatemic rickets and hyperprolactinemia. Patient 3 presented with thyrotoxicosis and developed GIPP nine months later for which she was started on Letrozole. She also has hypophosphatemic rickets. Patient 4 recently presented with GIPP for which she Letrozole was started.Conclusion Management options for GIPP are varied with aromatase inhibitors showing promising results in various studies (2, 3, 11, 13–17). However long-term studies are needed to comment on final heights of these cohort of patients with MAS as they have concurrent endocrinopathies and bony deformities (18, 21). It’s also important to follow them up regularly for the development of other hyper functioning endocrinopathies and other clinical manifestations.

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