11 一位媽媽帶著她6個月大的男嬰來到兒科急診，主訴這位小嬰兒自從出生後，已有10次中耳炎發作及2次因肺炎住院的過去病史，理學檢查時發現這嬰兒身上有多處瘀青（bruises），四肢也有多處濕疹（eczema），您認為這位小男嬰可能的診斷是：
Ataxia-telangiectasia Wiskott-Aldrich syndrome
X-linked agammaglobulinemia Combined variable immunodeficiency
ans: Wiskott-Aldrich syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954.[1] The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present similar but less severe symptoms and are caused by mutations of the same gene.
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14 有關juvenile rheumatoid arthritis（JRA）的敘述，下列何者錯誤？
生長和發展異常是JRA常見的併發症
若侵犯到TMJ（temporomandibular joints），可導致macrognathia
不對稱的下肢關節炎，常導致雙腳不等長
Leg length不同也可因pelvic rotation和scoliosis所造成
ans B
Arthritis of the temporal-mandibular joint (TMJ) may lead to micrognathia. TMJ arthritis may be asymptomatic; decreased mouth aperture or ausculatory abnormalities over the TMJ are signs of underlying arthritis (see the image below).
small jaw: micrognathia
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15 一位6歲男童因為父母發現他臉上有青春痘及陰毛發育而就診，身體檢查顯示陰毛確已發育，兩側睪丸均為2-3毫升，當時病人骨齡為13歲。性釋素刺激試驗（GnRH test）顯示其睪固酮（testosterone）基礎值為5 ng/mL，於性釋素刺激後，濾泡促素（FSH）之最高值為0.5 IU/L，黃體促素（LH）之最高值為0.5 IU/L。此病童最可能的病因為何？
下視丘錯構瘤（hypothalamic hamartoma）
睪丸萊氏細胞瘤（Leydig cell tumor of testis）
先天性腎上腺增生（congenital adrenal hyperplasia）
顱咽瘤（craniopharyngioma）
ans C:
not B: PE normal
lab test tells us that this is more of a peripheral problem rather than a central one
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16 一位8個月大女嬰仍不會翻身，身體檢查發現皮膚較乾燥，且有臍疝氣。就此個案言，下列那一項檢查最適當？
T3, T4 T3, TSH
T4, TSH 由腳跟採血片測TSH值
T4 and TSH
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17 下列那一種疾病所導致的性腺低能症（hypogonadism）的致病機轉與其他三者不同？
Kallmann syndrome Hypopituitarism
X-linked congenital adrenal hypoplasia Klinefelter syndrome
ans d
Kallmann syndrome is a hypogonadism (decreased functioning of the glands that produce sex hormones) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. Kallmann syndrome is also called hypothalamic hypogonadism, familial hypogonadism with anosmia, andhypogonadotropic hypogonadism, reflecting its disease mechanism.
X-linked congenital adrenal hypoplasia
An X-linked form (OMIM 300200) is caused by a mutation or deletion of the DAX1 gene (dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, also called the AHCH gene) on the X chromosome.4 This form is usually associated with hypogonadotropic hypogonadism.5 It may be part of a contiguous chromosome deletion, which may include congenital adrenal hypoplasia, Duchenne muscular dystrophy (OMIM 310200), and glycerol kinase deficiency (OMIM 307030).
the first three are all hypogonadotrphic hypogonadism.
the klinefelter.result of chromosoaml abnormality thus there is also a problem with the testis development
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18 一位1歲1個月小孩因3個月來逐漸軟弱無力來診。主訴在8個月大時一次感冒後被發覺漸進式肌肉無力，理學檢查全身肌肉鬆軟，肌力約為二至三度，無法坐直，檢查血中creatine kinase（CK）、乳酸及丙酮酸值均升高。最可能的診斷為何？
脊髓神經萎縮症（spinal muscular atrophy）
裘馨氏肌肉失養症（Duchenne muscular dystrophy）
先天性肌病（congenital myopathy）
粒線體肌病變（mitochondrial myopathy）
ans D
mitochondrial myopathy
Myoclonic epilepsy and ragged-red fibers (MERRF)
- progressive myoclonic epilepsy
- clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gömöri trichrome stain
- short stature
the increase in creatinine call for attention that this might be due to muscle problem, even a lysis. thus if by guessing. mitochondrial myopathy is the most likely one.
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20 下列何者不屬於粒線體腦病變？
Leigh氏病 雷特氏症候群（Rett syndrome）
雷氏症候群（Reye syndrome） 具ragged-red fiber之肌躍性癲癇（MERRF）
ans RETT syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain[1] that affects girls almost exclusively. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some)
Leigh's disease, also known as Subacute Necrotizing Encephalomyelopathy (SNEM), is a rare neurometabolic disorder that affects the central nervous system. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951
Reye syndrome: child, aspirin: The serious symptoms of Reye's syndrome appear to result from damage to cellular mitochondria
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