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[source] | ||
pmid = PMID:28183707 | ||
title = Chédiak-Higashi syndrome with novel gene mutation | ||
[diagnosis] | ||
disease_id = OMIM:214500 | ||
disease_label = Chediak-Higashi syndrome | ||
[text] | ||
A boy aged 2½ years was admitted with right-sided pneumonia, which did not improve on antibiotics. Prior to admission, | ||
the child had a history of fever and poor appetite of 2 weeks duration. He had no cough, sweating, vomiting, diarrhoea or urinary symptoms. | ||
The child had a history of recurrent wheezing which was managed by nebulised bronchodilators. Moreover, there was a history of skin | ||
discolouration and weight loss for the past 8 months. The child was under treatment for infantile eczema. One year back, | ||
he had scalp abscess, which was resolved by oral antibiotics. The child was born term by Lower segment Caesarean section (LSCS) | ||
due to previous LSCS and Placenta Previa. His mother had gestational diabetes. He had an uneventful prenatal, natal and postnatal | ||
history. His birth weight was 3kg. He was born to consanguineous parents; his parents are cousins. He has two healthy | ||
elder brothers and a sister. His vaccination schedule was up to date. There was a history of contact with a caregiver who had old treated tuberculosis. | ||
On examination, he was afebrile with normal vital signs. His general condition was good apart from pallor with good nutritional status. | ||
No lymph nodes were palpable. He has greyish short sparse hair. There was a hyperpigmented area at the forehead with other | ||
hypopigmented patches on the face, behind the ear (figure 1A), at the trunk, the scapular area (figure 1B), the dorsum of the hand (figure 1C), | ||
and extremities, especially the dorsum of the foot and upper inner thighs (figure 1D). The scrotum, flexural areas and creases were spared. | ||
There was no joint swelling or tenderness. His weight was between the 3rd and 10th centile, and his height was between the 50th and 75th centile. | ||
Systemic examination was normal apart from reduced air entry on the right side, mainly the posterior lower zone of the chest. | ||
There was no hepatosplenomegaly or bleeding tendency and nor was there neurological or developmental impairment. | ||
Preliminary investigation revealed anaemia with an elevated acute phase reactant. The relevant haematological findings were haemoglobin of | ||
8.8g %, and total white cell count was within the normal range of a healthy population with no leucopenia, neutropenia or lymphopenia. | ||
The total leucocyte count was 11900/μL and the platelet count 531000/μL. Differential leucocyte counts showed 60% lymphocytes, 26% neutrophils, | ||
10% monocytes and eosinophils 4%. C reactive protein: 12mg/L. Serum ferritin: 14.1ng/mL (N: 9.29–58.7). | ||
T-Spot Tuberculosis test: non-reactive. Acid-fast bacilli (AFB) Smear only: AFB not seen. AFB culture and sensitivity (gastric aspirate): not seen. | ||
CXR showed right middle lobe consolidation. Repeated chest X-ray after 1week revealed patchy opacities, noted in the right lung and left lower lobe, | ||
suggestive of progressive pneumonic consolidation. | ||
Immune status screen showed a non-specific reactive picture: CD4,8 RATIO 1.729% (normal range (N) 1.20–2.40), | ||
TOTAL T CELLS 67.7% (N:62.0–72.0), CD3 ABS 6119.0 CELL/μL (N:812–2318), CD4% 37.7% (N:35.0–55.0), CD4 ABS 3408.0 CELL/μL (N:589–1505) | ||
CD8% 21.8% (N:16.0–28.0), CD8 ABS 1971.0 CELL/μL (N:325–995), CD56% 2.3% (N:5.00–13.0), CD56 ABS 208.0 CELL/μL (N:78–602, CD19% 21.6% (N:12.0–28.0) | ||
CD19 ABS 1952.0 CELL/μL (N: 99–426). | ||
Immunoglobulins assay showed elevated immunoglobulin E (IgE) 2680.0KU/L (N: 0–64), IGG 21.80g/L (N: 4.07–10.09), IGA 2.01g/L (N: 0.14–1.22), | ||
IGM 1.94g/L (N:0.46–1.60). | ||
Liver and renal function tests were normal. |
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[source] | ||
pmid = PMID:28503313 | ||
title = Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development | ||
[diagnosis] | ||
disease_id = OMIM:270400 | ||
disease_label = Smith-Lemli-Opitz syndrome | ||
[text] | ||
The patient was born at 38 weeks of gestation to non-consanguineous Japanese parents. Birth weight, length and head | ||
circumference were 2,59Z g (−0.92 s.d.), 45 cm (−1.7 s.d.) and 33 cm (−0.1 s.d.), respectively. | ||
Ambiguous genitalia, low set ears, a short nose and Y-shaped 2–3 toe syndactyly were detected at birth (Figure 1a and b). | ||
Examination of the patient’s genitalia revealed a micropenis (stretch length: 1.5 cm), | ||
left lateral testicular hypoplasia (right and left diameters: 10 and 5 mm, respectively), hypospadias and a bifid scrotum (Figure 1c). | ||
Echography and magnetic resonance imaging failed to detect the presence of a uterus or ovaries. | ||
Blood examination revealed a relatively low total cholesterol (T. Chol) level (46 mg/dl) (reference: 129–232), | ||
normal testosterone and slightly low anti-mullerian hormone level for males. | ||
Urine steroid profile was normal. | ||
G-banding analysis confirmed a normal 46,XY male karyotype. From these results, the patient was recorded in public office documents as male. | ||
We performed cholesterol analysis with high-performance liquid chromatography. | ||
This analysis revealed relative hypocholesterolemia and high 7-DHC and 8-dehydrocholesterol levels in the patient and normal levels | ||
(undetectable) in his parents (Table 1). T. | ||
Chol/7-DHC was significantly lower in the patient than in his parents. | ||
Therefore, he was biochemically diagnosed with SLOS. | ||
The patient also presented with allergies for milk and eggs, and eczema throughout his body. | ||
His eczema, considered to be atopic dermatitis, was treated with corticosteroid ointment. |
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