Answer for BIR CoW 02 Dec 2018
Woodhouse –sakati syndrome.
Findings
MRI brain: Bilateral symmetric areas of gradient blooming noted in susceptibility weighted images in lentiform nucleus( globus pallidus) It is noted in T2 and FLAIR sequences as well. Clinical values of this patient: S. copper- 154 microgram/dl S.cerruloplasmin – 44mg/dl S.ferritin 112.8 ng/dl Cu 24 hours – 9 microg/24 hrs Impression: Bilateral symmetric areas of gradient blooming noted in susceptibility weighted images in lentiform nucleus( globus pallidus) -neurodegeneration with brain iron accumulation(NBIA) With clinical history of hypogonadism with NBIA and above mentioned biochemical values . F/S/O Woodhouse –sakati syndrome.
Discussion
Woodhouse –sakati syndrome. • Caused by mutation in DCAF17 gene. • Inherited in an autosomal recessive manner. MRI: T2 weighted MRI views of the brain indicating iron accumulation ,along with features of hair loss,diabetes,hearing loss,gonadal dysfunction and intellectual disability which are all indicative of this syndrome.The onset is usually in adolescence. NBIA(NEURODEGENERATION WITH BRAIN IRON ACCUMULATION) Represents a clinically and genetically heterogenous group of conditions characterized by progressive neurodegeneration and abnormally elevated brain iron. CLINICAL FEATURES: Choreoathetosis,dysarthria , dystonia,mental retardation,speech delay,pyramidal and extrapyrimidal disturbances. IMAGING FEATURES: Hypointensity in the GP and SN( globus pallidus, substantia nigra) Centralhyperintensity in the medial aspect of the very hypointense GP(the classic eye of tiger sign).classic eye of the tiger sign need not be present in all cases. Hypointense with blooming on T2(GRE,SWI) MRS shows decreased NAA and reduced NAA:Cr ratio Increased myoinosital Increased ml:Cr ratio at short TE DIFFERENTIAL DIAGNOSIS: PKAN GP,SN,dendate nuclei. “Eye of tiger” sign valuable. Spares cortex. Infantile neuroaxonal dystrophy Cerebellar atrophy(95%) T2 hypointensity in Gp,SN(50%) Spares cortex Neuroferitinopathy T2 hypointensity in GP, SN Then dendate /caudate nuclei,thalami Affects cortex Aceruloplasminemia. Gp,caudate nuclei,putamen ,thalamus Red nucleus.SN,dendatenuclei. Affects cerebral,cerebellar cortices.
Findings
MRI brain: Bilateral symmetric areas of gradient blooming noted in susceptibility weighted images in lentiform nucleus( globus pallidus) It is noted in T2 and FLAIR sequences as well. Clinical values of this patient: S. copper- 154 microgram/dl S.cerruloplasmin – 44mg/dl S.ferritin 112.8 ng/dl Cu 24 hours – 9 microg/24 hrs Impression: Bilateral symmetric areas of gradient blooming noted in susceptibility weighted images in lentiform nucleus( globus pallidus) -neurodegeneration with brain iron accumulation(NBIA) With clinical history of hypogonadism with NBIA and above mentioned biochemical values . F/S/O Woodhouse –sakati syndrome.
Discussion
Woodhouse –sakati syndrome. • Caused by mutation in DCAF17 gene. • Inherited in an autosomal recessive manner. MRI: T2 weighted MRI views of the brain indicating iron accumulation ,along with features of hair loss,diabetes,hearing loss,gonadal dysfunction and intellectual disability which are all indicative of this syndrome.The onset is usually in adolescence. NBIA(NEURODEGENERATION WITH BRAIN IRON ACCUMULATION) Represents a clinically and genetically heterogenous group of conditions characterized by progressive neurodegeneration and abnormally elevated brain iron. CLINICAL FEATURES: Choreoathetosis,dysarthria , dystonia,mental retardation,speech delay,pyramidal and extrapyrimidal disturbances. IMAGING FEATURES: Hypointensity in the GP and SN( globus pallidus, substantia nigra) Centralhyperintensity in the medial aspect of the very hypointense GP(the classic eye of tiger sign).classic eye of the tiger sign need not be present in all cases. Hypointense with blooming on T2(GRE,SWI) MRS shows decreased NAA and reduced NAA:Cr ratio Increased myoinosital Increased ml:Cr ratio at short TE DIFFERENTIAL DIAGNOSIS: PKAN GP,SN,dendate nuclei. “Eye of tiger” sign valuable. Spares cortex. Infantile neuroaxonal dystrophy Cerebellar atrophy(95%) T2 hypointensity in Gp,SN(50%) Spares cortex Neuroferitinopathy T2 hypointensity in GP, SN Then dendate /caudate nuclei,thalami Affects cortex Aceruloplasminemia. Gp,caudate nuclei,putamen ,thalamus Red nucleus.SN,dendatenuclei. Affects cerebral,cerebellar cortices.
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!