Isolated @entity2185 with unusual presentation mimicking XXXX .

@entity1 @entity4051 @entity410 @entity1952 @entity6 @entity6211 @entity2185 @entity2186 @entity4053 @entity8193 @entity520 @entity15744 @entity3043 @entity1270 @entity209 @entity4854 @entity3263 @entity347
BACKGROUND: @entity1270 is an acute, life threatening condition requiring early etiologic recognition and management to prevent serious morbidity/mortality. The most common cause is @entity6 ( @entity6 ). @entity347 ( @entity347 ) are inheritable disorders caused by defects in protein metabolism resulting in acid accumulation. @entity1 with metabolic decompensation usually present with @entity520 , with/without @entity4053 . @entity4854 is a very rare manifestation. At least 16 cases of @entity347 presenting with @entity4854 have been reported. Six of the 16 were diagnosed with isolated @entity2185 ( @entity2185 ) and three of the six passed away from late diagnosis. CASE DESCRIPTION: We describe a 2-year-old Thai @entity1 who presented with @entity4854 , @entity520 and @entity1270 . She has underlying delayed development, @entity410 , @entity1952 and poor growth. An initial diagnosis of @entity6 was made and standard treatment was started. After 4 h of treatment, the @entity1 partially responded to treatment; blood sugar decreased but @entity520 and @entity1270 persisted. @entity4051 c was normal. Investigations to rule out @entity347 were performed. Markedly elevated urinary @entity15744 consistent with @entity2185 was observed. Molecular and enzyme analyses confirmed the diagnosis with @entity2185 . Specific treatment for @entity2185 including protein restriction, high caloric fluid, @entity6211 and @entity2186 was promptly started. Clinical improvement was seen 4 days after initiating specific treatment. CONCLUSIONS: Inherited @entity209 should be included in differential diagnosis in @entity4854 @entity1270 @entity1 who respond poorly to standard @entity6 treatment. Unusual findings, e.g. @entity3263 , @entity8193 , @entity3043 , abnormal basal ganglia in MRI or underlying delayed development may indicate underlying @entity347 . Determining the etiology of @entity1270 is important and can lead to good outcomes.
