An Image for Differential Diagnosis

Okasha, Mahmoud K.; El-Mazary, Abdel-Azeem M.

doi:10.21608/anj.2019.45820

An Image for Differential Diagnosis

Document Type : Short Communication

Authors

Department of Pediatrics,minia University, Minia, Egypt.

10.21608/anj.2019.45820

Abstract

Male infant 16 month old of consanguineous marriage presented with macrocephaly (Head
circumference > 97 % on growth charts) with delayed motor (stand with support) and mental
development (No words, delayed recognition of his mother…. ). No family history of large head. No
organomegaly or lymphadenopathy. Clinical examination and investigations excluded rickets as a cause
for his macrocephaly. MRI brain revealed mega-encephalic leukoencephalopathy with subcortical cysts
in which (diffuse hypo-density seen involving the white matter of both cerebral hemispheres including
the deep, subcortical and periventricular matter with no significant mass effect or medline shift).
What are your differential diagnoses?
How can reach the final diagnosis?

Keywords

Main Subjects

Neonatal Neurology

Full Text

Male infant 16 month old of consanguineous marriage presented with macrocephaly (Head circumference > 97 % on growth charts) with delayed motor (stand with support) and mental development (No words, delayed recognition of his mother…. ). No family history of large head. No organomegaly or lymphadenopathy. Clinical examination and investigations excluded rickets as a cause for his macrocephaly. MRI brain revealed mega-encephalic leukoencephalopathy with subcortical cysts in which (diffuse hypo-density seen involving the white matter of both cerebral hemispheres including the deep, subcortical and periventricular matter with no significant mass effect or medline shift). What are your differential diagnoses? How can reach the final diagnosis?
Key words: Macrocephaly, Motor, Mental, Metabolic, Glycine

Van der Knaap disease Megalencephalic leukoencephalopathy with subcortical cysts (MLC)(1): Van der Knaap disease, is a rare autosomal recessive disorder(2). It is characterised by macrocephaly that either presents at birth or develops during infancy(3). It occurs more commonly in some ethnicities where consanguinity is common(4),

References

Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders . Neurology 2009; 72:750–759
van der Knaap MS, Barth PG, Stroink H, et al. Leuko encephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324–334
Gorospe JR Singhal BS, Kainu T, Wu F, Stephan D D, Trent J, et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004;62:878-82.
Schiffmann R, van der Knaap MS. Invited article: An MRI-based approach to the diagnosis of white matter disorders Neurology 2009;72:750-9.