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1.
Childs Nerv Syst ; 37(10): 3257-3260, 2021 10.
Article in English | MEDLINE | ID: mdl-33404715

ABSTRACT

INTRODUCTION: Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and cerebellum malformations, markedly lack fiber decussation at the level of the pontomesencephalic junction. CASE REPORT: We report the case of a child who was born term with occipital encephalocele (OE), diagnosed with TCD and JS spectrum through computed tomography (CT), magnetic resonance (MR), diffuse tensor imaging (DTI), and clinical findings. She had the OE surgically corrected after spontaneous rupture on the second day after delivery. She developed postoperative ventriculitis, meningitis, and hydrocephalus, successfully treated with intravenous antibiotics and cysto-ventriculostomy, cysto-cisternostomy, third ventriculostomy, and choroid plexus coagulation. G-band karyotyping showed 47, XXX, in all analyzed cells (trisomy X). The infant was followed up for 18 months, presenting, so far, a relatively good outcome. CONCLUSION: This is the first case reported in the literature of the association of TCD/OE/JS spectrum (JSS) with trisomy X (XXX).


Subject(s)
Encephalocele , Kidney Diseases, Cystic , Cerebellum/diagnostic imaging , Chromosomes, Human, X , Encephalocele/complications , Encephalocele/diagnostic imaging , Encephalocele/genetics , Female , Humans , Magnetic Resonance Imaging , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development , Trisomy
2.
Hum Pathol ; 39(1): 137-41, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18070632

ABSTRACT

We present a case of autoimmune lymphoproliferative syndrome (ALPS) caused by a previously undescribed minimal deletion in the death domain of the FAS gene. ALPS is an uncommon disease associated with an impaired Fas-mediated apoptosis. The patient presented with a history of splenomegaly since 4 months of age, associated with cervical lymphadenopathy, which improved with oral corticosteroid treatment. Relevant laboratory findings were the presence of anemia, thrombocytopenia, and positive direct and indirect Coombs tests. He was not an offspring of consanguineous parents. Two cervical lymph node biopsies were performed, at 4 years and at 6 years of age. In both lymph nodes, there was marked paracortical expansion by lymphocytes in variable stages of immunoblastic transformation and a very high cell proliferating index. Some clear cells were also present, raising the suspicion of malignant lymphoma. In one of the lymph nodes, there was also a focus rich in large histiocytes with round nuclei and emperipolesis, consistent with focal Rosai-Dorfman disease. Immunostaining showed numerous CD3+ cells, many of which were double-negative (CD4- CD8-) and expressed CD57, especially around the follicles. Molecular studies of the lymph node biopsy showed a point deletion (4-base pair deletion) in exon 9 of the FAS gene (930del TGCT), which results in 3 missense amino acids.


Subject(s)
Autoimmune Diseases/genetics , Fas-Associated Death Domain Protein/genetics , Lymphoproliferative Disorders/genetics , Sequence Deletion , Child , Humans , Male , fas Receptor/metabolism
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