PDF(Pubmed)
Abstract：
UNASSIGNED: The clinical picture of intracerebral calcification is so varied that it constitutes an essential element of a wide range of clinical syndromes of variable expression that continue to be described. In this article, we discuss the diagnostic possibilities of basal ganglia calcification considering the association of failure to thrive and macular degeneration in our patient.
UNASSIGNED: A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia. The patient also presented with a distance vision disorder for which the ophthalmological examination revealed poor visual acuity in both eyes (2/10) and macular degeneration in the left eye. On physical examination, we noted a short stature with a small head circumference in relation to age. The brain scan revealed the presence of bilateral striato-pallidal calcifications giving the appearance of Fahr\'s disease. However, the association of delay of stature development with microcrania, macular degeneration with reduced visual acuity and basal ganglia calcifications could suggest a wide range of syndromic hypotheses, the most likely of which is Rajab-type cerebral calcification.
UNASSIGNED: The association of failure to thrive, macular degeneration, and cerebral calcification of the basal ganglia is revealed as a particular phenotype compared to cases reported in the literature. An in-depth analysis would be necessary to identify a possible genetic basis.
UNASSIGNED: A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia. The patient also presented with a distance vision disorder for which the ophthalmological examination revealed poor visual acuity in both eyes (2/10) and macular degeneration in the left eye. On physical examination, we noted a short stature with a small head circumference in relation to age. The brain scan revealed the presence of bilateral striato-pallidal calcifications giving the appearance of Fahr\'s disease. However, the association of delay of stature development with microcrania, macular degeneration with reduced visual acuity and basal ganglia calcifications could suggest a wide range of syndromic hypotheses, the most likely of which is Rajab-type cerebral calcification.
UNASSIGNED: The association of failure to thrive, macular degeneration, and cerebral calcification of the basal ganglia is revealed as a particular phenotype compared to cases reported in the literature. An in-depth analysis would be necessary to identify a possible genetic basis.
摘要：
■脑内钙化的临床表现如此多变，以至于它构成了继续描述的各种可变表达的临床综合征的基本要素。在这篇文章中,我们讨论了基底节钙化的诊断可能性，考虑到我们的患者未能茁壮成长和黄斑变性的关联。
■一名17岁的刚果裔男性患者向我们咨询了一种锥体束综合征，该综合征包括动员期间的上肢震颤和书写障碍。患者还出现远距视力障碍，眼科检查显示双眼视力差（2/10），左眼黄斑变性。在体检时，我们注意到与年龄有关的身材矮小，头围较小。脑部扫描显示存在双侧纹状体钙化，从而出现Fahr病。然而,身高发育延迟与微颅骨的关系，视敏度降低和基底神经节钙化的黄斑变性可能提示广泛的综合征假说，最有可能的是Rajab型脑钙化.
■未能茁壮成长的关联，黄斑变性,与文献报道的病例相比，基底节的脑钙化被揭示为一种特殊的表型。必须进行深入分析，以确定可能的遗传基础。
■一名17岁的刚果裔男性患者向我们咨询了一种锥体束综合征，该综合征包括动员期间的上肢震颤和书写障碍。患者还出现远距视力障碍，眼科检查显示双眼视力差（2/10），左眼黄斑变性。在体检时，我们注意到与年龄有关的身材矮小，头围较小。脑部扫描显示存在双侧纹状体钙化，从而出现Fahr病。然而,身高发育延迟与微颅骨的关系，视敏度降低和基底神经节钙化的黄斑变性可能提示广泛的综合征假说，最有可能的是Rajab型脑钙化.
■未能茁壮成长的关联，黄斑变性,与文献报道的病例相比，基底节的脑钙化被揭示为一种特殊的表型。必须进行深入分析，以确定可能的遗传基础。
