We present 4 cases of sudden infant death in which we believe that gastroesophageal reflux (GOR) ... more We present 4 cases of sudden infant death in which we believe that gastroesophageal reflux (GOR) was a contributory, if not a causative, factor. Two of our patients had documented GOR reflux disease during life, and all 4 cases showed histologic evidence of GOR. No other cause of death was identified in any of the patients. Gastroesophageal reflux can cause sudden death in a vulnerable infant during a critical period of development through failure of "autoresuscitation" mechanisms.
Fowler syndrome, also known as proliferative vasculopathy and hydrocephaly-hydranencephaly, is a ... more Fowler syndrome, also known as proliferative vasculopathy and hydrocephaly-hydranencephaly, is a lethal condition characterized by hydrocephalus associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy. The occurrence of Fowler syndrome in consanguineous families and recurrence in both sexes are suggestive of an autosomal recessive transmission. We present the second case of Fowler syndrome presenting as a Dandy-Walker malformation, in a consanguineous family.
Malignant tumors of the liver with rhabdoid features (MTR) are uncommon: Only 14 previous cases a... more Malignant tumors of the liver with rhabdoid features (MTR) are uncommon: Only 14 previous cases are reported in the literature. These tumors are characterised morphologically by sheets of large polygonal cells with abundant eosinophilic cytoplasm containing a periodic acid Schiff's-positive hyaline globular inclusion and vesicular nuclei with a central prominent nucleolus. Immunohistochemically, the inclusions at least show positivity for vimentin and epithelial markers and sometimes for other antigens. Ultrastructurally, the inclusions are composed of whorled intermediate filaments. Despite the superficial resemblance to cells of muscle origin implied in the term rhabdoid, there is no immunohistochemical or ultrastructural evidence to support such a derivation. We describe four additional children with tumors of this type, in three of whom tumor cells showed focal membrane positivity for MIC-2 on immunostaining. Its expression in an hepatic MTR may indicate neuroepithelial differentiation. Hepatic MTR should be considered in the differential diagnosis of an undifferentiated primary liver tumor in an infant in whom the alpha-fetoprotein concentration is normal or only slightly elevated for age.
Anterior chamber seeding following intraophthalmic artery chemotherapy is rarely reported. To des... more Anterior chamber seeding following intraophthalmic artery chemotherapy is rarely reported. To describe clinicopathologic observations in eyes in which intraophthalmic artery chemotherapy for retinoblastoma failed and to report anterior chamber involvement. A retrospective case series of 12 enucleated eyes (11 patients) with retinoblastoma refractory to intraophthalmic artery chemotherapy between March 1, 2010, and October 31, 2013, at University College London Institute of Ophthalmology and the Retinoblastoma Service, Royal London Hospital. Data analysis was conducted from June 1, 2014, to March 1, 2015. The International Classification of Retinoblastoma groups were B in 1 eye (8%), C in 4 eyes (33%), and D in 7 eyes (58%). Systemic chemotherapy with vincristine sulfate, etoposide, and carboplatin had failed in 10 patients (91%) and 6 eyes (50%) received additional local treatments. In 6 eyes (50%) anterior chamber invasion was clinically detectable. On histopathologic examination, 4 eyes (33%) had no viable retinal tumor; the remainder had poorly differentiated tumor (6 eyes [50%]) or moderately differentiated tumor (2 eyes [17%]). Anterior segment involvement occurred in the ciliary body and/or ciliary muscle (7 eyes [58%]), iris (6 eyes [50%]), and cornea (4 eyes [33%]). Intraophthalmic artery chemotherapy can fail in eyes with retinoblastoma. In contrast to previous reports on outcomes following intraophthalmic artery chemotherapy, our series shows involvement of the anterior segment of the eye, including the ciliary body, iris, and cornea. Careful case selection and follow-up are advised.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Vitamin D is required for calcium absorption and normal bone mineralization; it has a key role in... more Vitamin D is required for calcium absorption and normal bone mineralization; it has a key role in immune regulation against infections and is believed to be involved in immunomodulation in asthma. We did a retrospective analysis of 52 postmortem cases (aged 2 days to 10 years). Seventeen children had vitamin D deficiency (<25 nmol/L); 24 children had vitamin D insufficiency (25-49 nmol/L); 10 children had suboptimal vitamin D levels (50-79 nmol/L); and only 1 child had adequate levels (≥80 nmol/L). Three infants had fractures. Growth plate histology was abnormal in 10 cases with vitamin D deficiency (59%), but radiology was abnormal in only 3 of those cases. Eight infants (33%) with vitamin D insufficiency had abnormal histology, but radiology was normal in all cases. In 3 children hypocalcemia due to vitamin D deficiency was considered accountable for death; they all showed radiological and histological rickets: 2 babies had cardiomyopathy and a 3-year-old had hypocalcemic seizu...
We present 4 cases of sudden infant death in which we believe that gastroesophageal reflux (GOR) ... more We present 4 cases of sudden infant death in which we believe that gastroesophageal reflux (GOR) was a contributory, if not a causative, factor. Two of our patients had documented GOR reflux disease during life, and all 4 cases showed histologic evidence of GOR. No other cause of death was identified in any of the patients. Gastroesophageal reflux can cause sudden death in a vulnerable infant during a critical period of development through failure of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;autoresuscitation&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mechanisms.
Fowler syndrome, also known as proliferative vasculopathy and hydrocephaly-hydranencephaly, is a ... more Fowler syndrome, also known as proliferative vasculopathy and hydrocephaly-hydranencephaly, is a lethal condition characterized by hydrocephalus associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy. The occurrence of Fowler syndrome in consanguineous families and recurrence in both sexes are suggestive of an autosomal recessive transmission. We present the second case of Fowler syndrome presenting as a Dandy-Walker malformation, in a consanguineous family.
Malignant tumors of the liver with rhabdoid features (MTR) are uncommon: Only 14 previous cases a... more Malignant tumors of the liver with rhabdoid features (MTR) are uncommon: Only 14 previous cases are reported in the literature. These tumors are characterised morphologically by sheets of large polygonal cells with abundant eosinophilic cytoplasm containing a periodic acid Schiff&#39;s-positive hyaline globular inclusion and vesicular nuclei with a central prominent nucleolus. Immunohistochemically, the inclusions at least show positivity for vimentin and epithelial markers and sometimes for other antigens. Ultrastructurally, the inclusions are composed of whorled intermediate filaments. Despite the superficial resemblance to cells of muscle origin implied in the term rhabdoid, there is no immunohistochemical or ultrastructural evidence to support such a derivation. We describe four additional children with tumors of this type, in three of whom tumor cells showed focal membrane positivity for MIC-2 on immunostaining. Its expression in an hepatic MTR may indicate neuroepithelial differentiation. Hepatic MTR should be considered in the differential diagnosis of an undifferentiated primary liver tumor in an infant in whom the alpha-fetoprotein concentration is normal or only slightly elevated for age.
Anterior chamber seeding following intraophthalmic artery chemotherapy is rarely reported. To des... more Anterior chamber seeding following intraophthalmic artery chemotherapy is rarely reported. To describe clinicopathologic observations in eyes in which intraophthalmic artery chemotherapy for retinoblastoma failed and to report anterior chamber involvement. A retrospective case series of 12 enucleated eyes (11 patients) with retinoblastoma refractory to intraophthalmic artery chemotherapy between March 1, 2010, and October 31, 2013, at University College London Institute of Ophthalmology and the Retinoblastoma Service, Royal London Hospital. Data analysis was conducted from June 1, 2014, to March 1, 2015. The International Classification of Retinoblastoma groups were B in 1 eye (8%), C in 4 eyes (33%), and D in 7 eyes (58%). Systemic chemotherapy with vincristine sulfate, etoposide, and carboplatin had failed in 10 patients (91%) and 6 eyes (50%) received additional local treatments. In 6 eyes (50%) anterior chamber invasion was clinically detectable. On histopathologic examination, 4 eyes (33%) had no viable retinal tumor; the remainder had poorly differentiated tumor (6 eyes [50%]) or moderately differentiated tumor (2 eyes [17%]). Anterior segment involvement occurred in the ciliary body and/or ciliary muscle (7 eyes [58%]), iris (6 eyes [50%]), and cornea (4 eyes [33%]). Intraophthalmic artery chemotherapy can fail in eyes with retinoblastoma. In contrast to previous reports on outcomes following intraophthalmic artery chemotherapy, our series shows involvement of the anterior segment of the eye, including the ciliary body, iris, and cornea. Careful case selection and follow-up are advised.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Vitamin D is required for calcium absorption and normal bone mineralization; it has a key role in... more Vitamin D is required for calcium absorption and normal bone mineralization; it has a key role in immune regulation against infections and is believed to be involved in immunomodulation in asthma. We did a retrospective analysis of 52 postmortem cases (aged 2 days to 10 years). Seventeen children had vitamin D deficiency (<25 nmol/L); 24 children had vitamin D insufficiency (25-49 nmol/L); 10 children had suboptimal vitamin D levels (50-79 nmol/L); and only 1 child had adequate levels (≥80 nmol/L). Three infants had fractures. Growth plate histology was abnormal in 10 cases with vitamin D deficiency (59%), but radiology was abnormal in only 3 of those cases. Eight infants (33%) with vitamin D insufficiency had abnormal histology, but radiology was normal in all cases. In 3 children hypocalcemia due to vitamin D deficiency was considered accountable for death; they all showed radiological and histological rickets: 2 babies had cardiomyopathy and a 3-year-old had hypocalcemic seizu...
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