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Mystery Diagnosis #2 -- Your help needed Print E-mail
published 27-07-2007

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Mystery Lesions 2Comfort is a five month old girl admitted to Evangel from 6 to 11 July with a diagnosis of congestive heart failure.

She was born by NSVD at 9 months gestation but weighed only 2 kg by the mother’s recollection. From the time of birth, the mother thought she was having noisy breathing. She also had a rash on the face. The mother also felt that Comfort was not gaining weight well.

(Click on photos for larger versions). continued ...

At admission the baby was tachycardic (120-140/min), tachypneic (64/min), with “harsh” breath sounds but no crepitations. She had a pansystolic murmur (or possibly decrescendo) of grade 3/6. The liver was just palpable.

Mystery Lesions 2bThe facial skin was remarkable for raised, flat, reddish lesions loosely grouped in areas mostly on the right cheek, the mouth, and around the eyes, appearing to be some type of hemangioma.

The mother says the lesions have changed little if any since birth. There were no bruits heard over the head, back, or abdomen. There was also a skin lesion over the upper sternum, about 7mm, round, depressed and depigmented, appearing to be an area of dermal atresia.

The chest radiograph showed cardiomegaly and some patchy opacities.

Labs included haematocrit 33%, WBC 14,400 with 32% neutrophils, 66% lymphocytes, and 2% eosinophils. No malaria parasites were found. The HIV screen was negative by two rapid tests.

Mystery Lesions 2The patient was treated with frusemide (furosemide) and captopril and recovered well. Today at her follow up visit she is well and the mother says there are no problems. She has not gained any weight since admission, however. She has a heart rate of 120/min, respirations 38/min. There is a 3/6, harsh, decrescendo murmur loudest at the lower left sternal border. I believe there is also a softer diastolic murmur which varies with respiration. Again, there are no bruits. The oxygen saturation while on room air was 98%.

The skin lesions were unchanged but I also noted on examination of the mouth that there are well demarcated areas of redness or telangiectasia on some areas of the labial, gingival and lingual mucosa, which appear related to the skin lesions.

In summary, the patient seems to have multiple congenital abnormalities including dermal, angiogenic, and cardiac.

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