In 2007, the European Task Force for neuronopathic Gaucher disease (NGD) published a review of 55 patients across four countries. Although some observations were possible, analysis was difficult due to the absence of a systematic way of assessing patients. In response to this, a Severity Scoring Tool (SST) was devised to offer a systematic means of assessing the neurological presentation seen. The SST has been modified (mSST) and is a valid tool for monitoring neurological progression. This review describes disease status and progression of neurological manifestations in a cohort of 39 chronic NGD patients across three European countries over a period of 4 years, using the mSST.

Background The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1).Case presentation We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected.Conclusions Symptomatic lung involvement and an increased susceptibility to pulmonary infections are uncommon in GD and, if present, are often associated with more severe disease manifestations. To our knowledge, this is the first published report on the association of GD and pulmonary aspergillosis and mycobacterial infection. It illustrates the increased susceptibility of untreated GD patients to opportunistic pulmonary infections and ineffective eradication of these infections despite adequate therapy.

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Pulmonary zygomycosis, also referred to as mucormycosis, is a fungal infection of lungs caused by fungi of the order Mucorales in the class of Zygomycetes. It is usually associated with high morbidity and mortality. Here, we report the case of a 14-year-old girl with pediatric acute promyelocytic leukemia (APL) on antifungal prophylaxis with posaconazole, who developed pulmonary Lichtheimia corymbifera (formerly Absidia corymbifera) zygomycosis. She was successfully treated by means of liposomal amphotericin B (L-AmB) and surgery. To our knowledge, this is the first published report on pediatric APL and pulmonary zygomycosis in the English language literature. At present, the patient is in complete remission of her APL and without any signs of recurrence of zygomycosis. This report suggests that efficient diagnostics, increased physician awareness, and reliance on adjunctive surgical therapy can result in a favorable outcome of pulmonary zygomycosis in immunocompromised children with hematological malignancies.

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