2. Case presentation:
A 38-years old Sudanese single woman, the fifth issue of a consanguineous marriage came to a university hospital, Sudan, complaining of irritability and vomiting. She had delayed developmental milestones while her siblings were normal. She had a poor school performance. At the age of six, the patient started to develop night blindness, and she has completely lost her vision at the age of 16. Her father also was blind and died due to ESRD. There was no history of diabetes mellitus or hypertension. Gynaecological history revealed that she had menarche at age of 14, and since then she has had irregular cycles. Timeline of her events was described in Figure [1].
On physical examination, blood pressure was 140/90 and pulse was 80 BPM, she had a puffy face and pendulous abdomen. Her body mass index was 31 kg/m2. Fundus examination disclosed retinitis pigmentosa and optic atrophy Figure [2]. Thyroid gland was not enlarged. Musculoskeletal system examination revealed postaxial polydactyly in the upper right limb Figure [3a] and bilateral lower limbs Figure [3b]. Her liver was enlarged 4 cm below the costal margin, and bilateral lower limb oedema was noticed. Precordial and chest examinations were non-contributory.
Laboratory investigations showed serum sodium 110 mmol/L, blood urea 114 mg/ dl, serum creatinine 6.2mg/dl, haemoglobin 5.4 g/dl (normochromic normocytic anemia) and uncountable pus cells in urine examination. Thyroid function tests showed normal T3 and T4, with an increased TSH. RBS and LFT were normal. Other hormonal profiles showed features of hypergonadotrophic hypogonadism. [Table 1 for further details]. Study glomerular filtration rate (GFR) value based on 4 variables (age, race, gender, plasma creatinine) 8ml/min/1.73 m2.
Abdominal ultrasonography showed a small size right kidney (83*32mm) Figure [4a], while the left kidney was not detected. The liver was enlarged (16 cm) with hyperechoic focal lesion (picture of hepatic hemangioma) Figure [4b], solitary gall bladder stone, and infantile uterus. CT KUB revealed atrophied left kidney. Figure [4c] ECG showed features of LVH, transthoracic echocardiography revealed LVH, EF 62% and poor echogenicity.
Diagnostic challenges: CT with contrast and MRI abdomen to confirm hepatic haemangioma were not performed to avoid contrast-induced nephropathy and nephrogenic systemic fibrosis.