Abetalipoproteinemia and Metastatic Spinal Cord Glioblastoma

Abetalipoproteinemia: two case reports and literature review

“…All reported patients have fat malabsorption, acanthocytosis, low serum cholesterol and deficiency of serum apo B. Retinitis pigmentosa, spinocerebellar ataxia and myopathy have complicated most of the cases. Two reports of possible association with certain cancers like ileal adenocarcinoma and metastatic spinal cord glioblastoma [ 9 , 10 ] have been reported and fatty liver was reported in 4 cases. The clinical presentation is very heterogeneous and previous reports had suggested that MTP deficiency is not the sole cause of ABL [ 11 ].…”

Abetalipoproteinemia: two case reports and literature review

“…All reported patients have fat malabsorption, acanthocytosis, low serum cholesterol and deficiency of serum apo B. Retinitis pigmentosa, spinocerebellar ataxia and myopathy have complicated most of the cases. Two reports of possible association with certain cancers like ileal adenocarcinoma and metastatic spinal cord glioblastoma [ 9 , 10 ] have been reported and fatty liver was reported in 4 cases. The clinical presentation is very heterogeneous and previous reports had suggested that MTP deficiency is not the sole cause of ABL [ 11 ].…”

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

“…As such, ABL provides unique insight into the biological role of human CD1. Interestingly, while only a minority of the 100 known ABL cases has been characterized in detail, several potentially immune-related clinical disorders have been described, including cardiac insufficiency caused by lesions resembling chronic interstitial myocarditis (1,42,43), fatal recurrent pulmonary infections (44), and malignancies that are otherwise rarely observed (45)(46)(47). Although a causal relationship between these defects in ABL and impaired CD1 function is speculative, these phenomena are consistent with a CD1-associated defect, given the observed role of NKT cells in the defense against several cardiotropic (e.g., Coxsackie viruses) and pulmonary pathogens (e.g., Streptococcus pneumoniae, Pseudomonas aeruginosa, respiratory syncytial virus), as well as in anticancer immunity in mouse models (18).…”

A Spinal Cord Astrocytoma and Its Concurrent Osteoblastic Metastases at the Time of the Initial Diagnosis: a Case Report and Literature Review

“…It is also because extraneural metastases from central nervous system astrocytomas involving the bone are quite rare, and particularly when the spinal cord is the primary site (2). Hence, various clinical aspects of systemic metastasis from a spinal cord astrocytoma have not been well elucidated.…”

“…There have been only two old reports about spinal cord astrocytomas with accompanying bone metastases (2, 3). Both the cases were high grade astrocytoma like our case.…”

“…The first report in 1971 was a case of glioblastoma multiforme that originated from the lower thoracic spinal cord with bone metastases (3). The second report in 1984 was a case of spinal cord glioblastoma with disseminated bone metastases to the ribs, humeri, scapulae, pelvis and right femur (2). Our case is the third case of high grade spinal cord astrocytoma that metastasized to the bone, but it is worthy of notice in two aspects.…”

Abetalipoproteinemia: two case reports and literature review

“…All reported patients have fat malabsorption, acanthocytosis, low serum cholesterol and deficiency of serum apo B. Retinitis pigmentosa, spinocerebellar ataxia and myopathy have complicated most of the cases. Two reports of possible association with certain cancers like ileal adenocarcinoma and metastatic spinal cord glioblastoma [ 9 , 10 ] have been reported and fatty liver was reported in 4 cases. The clinical presentation is very heterogeneous and previous reports had suggested that MTP deficiency is not the sole cause of ABL [ 11 ].…”

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

“…As such, ABL provides unique insight into the biological role of human CD1. Interestingly, while only a minority of the 100 known ABL cases has been characterized in detail, several potentially immune-related clinical disorders have been described, including cardiac insufficiency caused by lesions resembling chronic interstitial myocarditis (1,42,43), fatal recurrent pulmonary infections (44), and malignancies that are otherwise rarely observed (45)(46)(47). Although a causal relationship between these defects in ABL and impaired CD1 function is speculative, these phenomena are consistent with a CD1-associated defect, given the observed role of NKT cells in the defense against several cardiotropic (e.g., Coxsackie viruses) and pulmonary pathogens (e.g., Streptococcus pneumoniae, Pseudomonas aeruginosa, respiratory syncytial virus), as well as in anticancer immunity in mouse models (18).…”

A Spinal Cord Astrocytoma and Its Concurrent Osteoblastic Metastases at the Time of the Initial Diagnosis: a Case Report and Literature Review

“…It is also because extraneural metastases from central nervous system astrocytomas involving the bone are quite rare, and particularly when the spinal cord is the primary site (2). Hence, various clinical aspects of systemic metastasis from a spinal cord astrocytoma have not been well elucidated.…”

“…There have been only two old reports about spinal cord astrocytomas with accompanying bone metastases (2, 3). Both the cases were high grade astrocytoma like our case.…”

“…The first report in 1971 was a case of glioblastoma multiforme that originated from the lower thoracic spinal cord with bone metastases (3). The second report in 1984 was a case of spinal cord glioblastoma with disseminated bone metastases to the ribs, humeri, scapulae, pelvis and right femur (2). Our case is the third case of high grade spinal cord astrocytoma that metastasized to the bone, but it is worthy of notice in two aspects.…”

Abetalipoproteinemia: two case reports and literature review

“…All reported patients have fat malabsorption, acanthocytosis, low serum cholesterol and deficiency of serum apo B. Retinitis pigmentosa, spinocerebellar ataxia and myopathy have complicated most of the cases. Two reports of possible association with certain cancers like ileal adenocarcinoma and metastatic spinal cord glioblastoma [ 9 , 10 ] have been reported and fatty liver was reported in 4 cases. The clinical presentation is very heterogeneous and previous reports had suggested that MTP deficiency is not the sole cause of ABL [ 11 ].…”

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

“…As such, ABL provides unique insight into the biological role of human CD1. Interestingly, while only a minority of the 100 known ABL cases has been characterized in detail, several potentially immune-related clinical disorders have been described, including cardiac insufficiency caused by lesions resembling chronic interstitial myocarditis (1,42,43), fatal recurrent pulmonary infections (44), and malignancies that are otherwise rarely observed (45)(46)(47). Although a causal relationship between these defects in ABL and impaired CD1 function is speculative, these phenomena are consistent with a CD1-associated defect, given the observed role of NKT cells in the defense against several cardiotropic (e.g., Coxsackie viruses) and pulmonary pathogens (e.g., Streptococcus pneumoniae, Pseudomonas aeruginosa, respiratory syncytial virus), as well as in anticancer immunity in mouse models (18).…”

A Spinal Cord Astrocytoma and Its Concurrent Osteoblastic Metastases at the Time of the Initial Diagnosis: a Case Report and Literature Review

“…It is also because extraneural metastases from central nervous system astrocytomas involving the bone are quite rare, and particularly when the spinal cord is the primary site (2). Hence, various clinical aspects of systemic metastasis from a spinal cord astrocytoma have not been well elucidated.…”

“…There have been only two old reports about spinal cord astrocytomas with accompanying bone metastases (2, 3). Both the cases were high grade astrocytoma like our case.…”

“…The first report in 1971 was a case of glioblastoma multiforme that originated from the lower thoracic spinal cord with bone metastases (3). The second report in 1984 was a case of spinal cord glioblastoma with disseminated bone metastases to the ribs, humeri, scapulae, pelvis and right femur (2). Our case is the third case of high grade spinal cord astrocytoma that metastasized to the bone, but it is worthy of notice in two aspects.…”