The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non‐specific symptoms render the ...diagnosis of the different CDG very challenging. Phosphomannomutase 2 (PMM2)‐CDG is the most common CDG, but advances in genetic analysis have shown others to occur more commonly than previously thought. The present work reports the clinical and mutational spectrum of 25 non‐PMM2 CDG patients. The most common clinical symptoms were hypotonia (80%), motor or psychomotor disability (80%) and craniofacial dysmorphism (76%). Based on their serum transferrin isoform profile, 18 were classified as CDG‐I and 7 as CDG‐II. Pathogenic variations were found in 16 genes (ALG1, ALG6, ATP6V0A2, B4GALT1, CCDC115, COG7, DOLK, DPAGT1, DPM1, GFPT1, MPI, PGM1, RFT1, SLC35A2, SRD5A3, and SSR4). Overall, 27 variants were identified, 12 of which are novel. The results highlight the importance of combining genetic and biochemical analyses for the early diagnosis of this heterogeneous group of disorders.
Encephalitis due to NMDA receptors antibodies is a relatively common condition but it was under diagnosed until recently. It courses predictably and similarly in adults and children, although there ...are some differences, still less its association with tumours.
A 3 years-old girl who was admitted to our hospital with symptoms compatible with acute encephalitis, so we started treatment with acyclovir. During admission she was alterning periods of poor response to stimuli with periods of agitation, and progressed to complete silence, adding sleep problems. She suffered epileptic seizures, dystonic movements and autonomic disturbances. Cranial MRI showed mild cortical atrophy and EEG generalized slowing of base tracing. Repeated samples of cerebral spinal fluid were normal from cytological and biochemical point of view. In view of the torpid evolution she began methylprednisolone therapy and later inmunoglobulins with no improvement. Upon confirmation of the positivity for NMDA receptors antibodies in cerebral spinal fluid and serum, cyclophosphamide was administered, with gradual improvement of symptoms until full recovery. After ten months of follow-up without treatment she has not presented relapses and has ruled out the presence of tumours. CONCLUSIONS. It is important to recognize encephalitis with behavioural changes and abnormal movements, because early diagnosis and the beginning of appropriate therapy could improve the prognosis.
There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of ...the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms. In the anatomopathological analysis, the arachnoid cyst wall can be seen as having few differences from normal, although thickened due to an increase quantity of collagenous material. A description of the embryological development of the arachnoid layer and cyst formation is presented, describing the main anatomopathological findings.
Although rhabdomyosarcoma is the most frequent soft tissue tumor in children, there are extremely few reports of this tumor arising from the urachus. The authors describe another case in a 6-year-old ...female associated with constipation and a painless suprapubic mass. The specimen had the pathological criteria used to define urachal sarcoma (cytological, histological, and immunohistochemical findings) and urachal remnants were not observed. After complete resection of the primary tumor the patient was treated with chemotherapy (ifosfamide, vincristine, and dactinomycin) and remains alive at 4 years' follow-up with no signs of recurrence. Nowadays the management of children with urachal rhabdomyosarcoma usually includes surgery and chemotherapy. Multimodal therapy and surgery are constantly evolving and have significantly improved overall survival of these patients especially in R0 resected patients.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
