Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, identified in two monozygotic twins and one unrelated patient through array-CGH analysis. By cloning the deletion breakpoints, we could show that these deletions are not mediated by segmental duplications. The patients displayed a distinct clinical phenotype characterized by mild intellectual disability, short stature with high body mass index, thick hair, arched eyebrows, flat profile with broad chin and mild prognathism, broad, and slightly overhanging tip of the nose, short neck with cervical gibbus. The twin patients developed a metabolic syndrome (type 2 diabetes, hypercholesterolemia, vascular hypertension) during the third decade of life. Although long-term follow-up and collection of additional patients will be needed to obtain a better definition of the phenotype, our findings characterize a previously undescribed syndromic disorder associated with haploinsufficiency of the chromosome 9q31.1q31.3 region.

Lymphangioleiomyomatosis (LAM) is a rare lung disease affecting almost exclusively young women, characterised by abnormal proliferation of atypical smooth muscle cells. We describe a young woman presenting with chyluria secondary to the presence of a large retroperitoneal lymphangioleiomyoma. Immunohistochemical analysis revealed HMB45-negative LAM cells (HMB45 staining is absent only in rare cases) expressing low levels of estrogen receptors. Estrogen suppressive treatment with triptoreline, a synthetic analogue of Gn-RH, resulted in dramatic reduction of the retroperitoneal mass size. The role of estrogens in the pathogenesis of LAM remains poorly understood, and hormonal therapy is still debated, but this case suggests that at least in some LAM patients, possibly those with HMB45-negative disease and estrogen receptor expression, hormonal therapy may be effective in controlling the disease process.

Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy. Here, we describe a case of a 43-yearold woman with nemaline myopathy undergoing pulmonary rehabilitation during short hospital admission for an acute exacerbation. At the time of hospitalisation, the patient was already under oxygen therapy (1 L/min) and noninvasive home ventilation using bi-level positive airway pressure with a nasal interface. Supplementary therapeutic exercises were implemented in addition to daily nasal noninvasive ventilation. At discharge, ultrasound examination revealed increased diaphragm trophism if compared with data obtained at hospital admission.

No abstract

LAM is a rare and progressive pulmonary disease characterized by cystic radiological pattern and by the possible presence of angiomyolipomas in other organs. Functionally LAM consists in airway obstruction and progressive hypoxemia leading to respiratory failure. No studies, so far, investigated whether during sleep LAM patients show changes in the sleep profile. Aim of our study was to evaluate if, during sleep, the physiological modification of respiration is associated with polysomnographic (PSG) alterations. 8 patients affected by LAM underwent a whole-night polysomnography. Either respiratory failure or use of long-term oxygen therapy were exclusion criteria. All patients were female and had a normal BMI. 3 out of 8 patients (37.5%) had alterations to the PSG pattern: 1 patient showed obstructive sleep apnea (AHI 8.6), 1 patient had nocturnal desaturation (SatO2 time below 90% "T90" equal to 17.2%), while 1 patient had nocturnal desaturation (T90 = 27%) and obstructive sleep apnea (AHI 7.5). No arrhythmias were reported. Median sleep efficiency was 91% and median REM latency was 49 minutes. The two patients (25%) with nocturnal desaturation were treated with nocturnal oxygen therapy solving sleep desaturations, showing clinical improvement. This pilot study underlines the importance of assessing respiration during sleep in patients affected by LAM: these patients have a fragile respiratory balance and the normal physiological sleep modifications could translate in pathological desaturations, worsening the damage.