Evaluation of breast MRI showed that enhancement rate and time-intensity curve were useful only in the differential diagnosis between benign and malignant breast lesions. Our experience confirmed that breast MRI has very high sensitivity and, in particular, a negative predictive value of 100%. Breast MRI could thus be considered a useful diagnostic tool that can guide the choice between follow-up or surgical excision of radial scars.
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5’UTR region in exon 2 (-417 A>C).
Accessory spleen (AS) is a condition found in about 20% of patients and is most commonly located in the hilar region of the spleen. It is more often asymptomatic, single, and smaller than 2 cm. In the present study, we report the rare case of a 13-year-old boy with giant accessory spleen underwent spontaneous intrasplenic hemorrhage who presented with recurrent abdominal pain. Contrast-enhanced MRI was mandatory for the diagnosis before surgical procedure.
Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum.
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