A 14-day-old male who came to the Neurology and Endocrinology outpatient clinic for evaluation of a marked hypotonia from birth and bilateral cryptorchidism.
She was born in another center after spontaneous, controlled pregnancy, with normal course up to 33 weeks, when she started breastfeeding.
Normal amniotic fluid, without polyhydramnios and normal fetal movements from the fourth month.
The delivery was by cesarean section at 36 + 6 weeks, due to the risk of loss of fetal well-being.
Apgar test at one minute/five minutes: 8/9.
Newborn biometry: weight 2130 g (p5), length 4 cm (p7), perimeter 335.5 cm (p44).
She had no family history of interest, being the second child of a non-consanguineous couple, with a healthy previous daughter.
She was admitted to the Neonatology Unit of her reference hospital during the first three days of life, with the diagnosis of low birth weight newborn, asymptomatic early cryptococcal hypoglycemia (which required intravenous correction during the first hours of life), normal testicle screening testicle
A sample was also extracted for genetic study (karyotype) and discharged at three days of life, with good clinical evolution, feeding with supplemented breastfeeding and recommendation for review in a reference center.
In the physical examination in our consultations we observed a peculiar phenotype with dolicocephalia, almond eyes, small ears of low implantation and small mouth with ojival palate.
He also has bilateral cryptorchidism and stenosis of the sacs with normal morphology and size penis.
The neurological examination showed a striking generalized hypotonia with axial predominance, with open book posture in decubitus and poor general motility, although with the possibility of raising upper and lower limbs against gravity, low facial hypomotility, succinct.
It does not present facial movements, has adequate osteotendinous reflexes present although slightly decreased, symmetrical and normal Morus reflex.
The rest of newborn reflexes were normal, except for the suction reflex that was very weak.
The rest of the neurological examination was normal.
Sheep boilers, with no other signs of instability.
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Due to the marked hypotonia and poor suction that led to an important feeding difficulty, she presented a poor gain nasogastric tube, so she was admitted to the Neonatology department to complete the study and perform nutritional support with a gastric tube.
During admission to the neonatal unit, the patient needs respiratory support with high-flow glasses (4-5 l/min, inspiratory oxygen at the maximum level of 30%), secondary to nasal hypotony hypoxaemia and central oxygen uptake below.
Respiratory symptoms resolved five days after admission.
It also requires a nasogastric tube feeding supplement with a hypercaloric formula, with progressive passage to the oral route, showing with the passage of the days an adequate, albeit slow, coordination acid fast swallowing curve.
Rehabilitation and early stimulation measures are initiated during admission, showing improvement in general motility, although marked axial hypotonia persists.
The nasogastric tube can be removed at 35 days of life, subsequently maintaining adequate gain with exclusive enteral feeding, being discharged two days later.
The remaining analytical and ultrasound tests (abdominal, cranial, echocardiography, hips) performed during hospitalization showed no relevant results, except the confirmation of bilateral cryptorchidism with both channels in the proximal inguinal third of their respective channels.
During their stay in the Neonatal Unit, the results of the genetic study performed in their hospital of origin were received, which confirmed a karyotype 45,XY, chromosome 15, with deletion of the Praderman-Willi/An region.
With the diagnosis of PWS, discharge is given and multidisciplinary outpatient follow-up is indicated in external consultations of Neonatology, Gastroenterology, Neurology and Child Endocrinology.
