No abstract

Langerhans cell histiocytosis (LCH) can involve multiple organs. "Primary" or isolated pulmonary LCH is a well-described entity in young adults but is exceedingly rare in children younger than 15 years of age. The authors report a new case in a 2-year-old girl and review other reported cases in the pediatric population. The patient had had respiratory symptoms since early infancy suggestive of hyperactive airway disease. At 2 years of age, she had severe pulmonary insufficiency with remarkable cystic changes noted on chest imaging studies. Biopsy of a pulmonary lesion confirmed the diagnosis of LCH. She had no other organ involvement. Pulmonary histiocytosis, though rare, should be considered in any child with chronic respiratory disease such as bronchial asthma, especially when the response to anti-asthma treatment is poor and/or there are cystic changes on the chest x-ray.

Several clinical characteristics-age, initial white blood cell (WBC) count, involvement of the central nervous system (CNS) disease at diagnosis, involvement of testis at diagnosis, immunophenotype, cytogenetics abnormalities-have been found to be associated with disease prognosis and outcomes. Patients with favorable prognosis are treated with less toxic regimen, while more aggressive regimens are offered to those with poor prognosis. The main components of treatment based on multidrug chemotherapy regimen to avoid drug resistance includes-remission induction, consolidation, interim maintenance, delayed intensification, maintenance chemotherapy, and CNS directed therapy (Cooper and Brown, 2015). With the incremental advances in therapy more than 80% survival (98% in certain subset) has been achieved in the developed countries (Gaynon et al., 1997).

Marble brain disease, also known as Guibaud-Vainsel syndrome, is a syndrome consisting primarily of renal tubular acidosis, cerebral calcification and osteopetrosis. The majority of reports originate from the Middle East. It is an autosomal recessive condition owing to carbonic anhydrase type II deficiency in renal and brain cells with a variant form of osteopetrosis. We report two siblings with this condition from Saudi Arabia. Both cases improved in both somatic growth and mental development after commencing treatment for renal tubular acidosis in the form of alkaline therapy and potassium supplementation.

No abstract

No abstract

No abstract

No abstract