30/12/2023
Asalam u Alaikum,
Dear Doctors,
Can You Diagnosis the Case?
♦️Case Presentation♦️
A 10-Year-old boy from Swat Valley Kpk province, Pakistan was referred to our endocrinology Clinic because of his short height.
Because he was a refugee from Afghanistan, no data from his neonatal period were available.
The initial physical examination noted extremely short stature (72.1 cm; −11.1 standard deviations [SD]) with signs of disharmonic growth, marked microcephaly, retrognathia, slightly dysplastic auricles, and a prominent nose with elevated nasal root and wide bridge...
(See image Below 👇)
Exploration of the oral cavity revealed dental malposition and cavities.
Blood pressure was normal.
Temperature, Pulse Rate, Respiratory Rate and Oxygen Saturation are in Normal Limits...
Sexual development Absence of p***c hair and bilateral testicular volume 1 cc was classified as Tanner stage 1.
During the examination, a nasal voice was noted. Neuropsychological assessment found moderate to severe intellectual disability....
Initial laboratory tests revealed,,
Mild Thrombocytosis (616 000 platelets/µL)
And
Hypernatremia (Na 150 mEq/L);
Growth hormone (GH) 0.18 ng/mL,
And,
insulin-like growth factor 1 (IGF-1) 471 ng/mL were within the normal limits.
A glucagon-based GH-stimulation test revealed pathology, with GH levels peaked at 30 minutes of 0.93 ng/mL.
Cortisol levels were normal.
His growth rate after 6 months was 0.6 cm/year (−4.5 SD).
Imaging to assess scoliosis revealed osteoporosis, bilateral coxa vara, and diffuse platyspondyly without scoliosis...
See image Below....
Abdominal ultrasound showed malrotation of the left kidney.
Magnetic resonance imaging (MRI) of the head showed a simplified convolution pattern, moyamoya syndrome with secondary brain atrophy, and hypoplasia of the corpus callosum and anterior commissure...
See image Below...
The Wechsler Nonverbal Scale of Ability (WNV) revealed a nonverbal cognitive ability at the lower limit of normal results (WNV 34).
In the comprehensive vocabulary test, he obtained a result equivalent to that of an 18-month-old child;
He collaborated adequately in all tests...
Echocardiography findings were normal.
A molecular study of primitive microcephaly identified the variant c.3465-1G>A in intron 17 of the PCNT gene in homozygosis.
The current management of the patient is based on medical follow-up by endocrinology, nephrology, and neurology.
Endocrinology management consists of ruling out growth hormone deficiency, hypothyroidism, or another condition that could limit his height.
We anticipate a final height below 110 cm.
Nephrology evaluation involves measuring blood pressure and study of renal function to be sure it is in normal range.
Neurologic management entails performing magnetic resonance imaging to confirm the possibility of moyamoya syndrome, which was diagnosed, and to assess evolution of neurovascular abnormalities and neurodevelopment.....
So, Dear Doctors,
What's your final Diagnosis now?
Let's discuss the case in Comments...
Best Regards,
Consultant Endocrinologist and DiabetologistCopy.
