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.