BACKGROUND

Newborns screened positive for Galactosemia through Expanded Newborn Screening (ENBS) with borderline levels undergo lactose challenge that requires interruption of breastfeeding temporarily then shifting to soy-based formula.

OBJECTIVE

To determine the percentage of Classical Galactosemia (CGal), Non-classical Galactosemia (NCGal), probable mild variant form, and negative Galactosemia among newborns screened positive for Galactosemia who underwent lactose challenge.

METHODS

This is a retrospective study. NBS records were reviewed and data were collected from January 2015 to December 2020.

RESULTS

Out of the 117 newborns screened positive for Galactosemia, 58 underwent lactose challenge. Majority were male, term with a birth weight of 2500-4000g and received a final disposition in 4-6 months. Fifteen patients underwent 1-week lactose challenge wherein six reached a resolution on first challenge. Majority, 35 (60.3%) were negative for Galactosemia, six (10.3%) probable mild variant Galactosemia, three (5.2%) NCGal, and no CGal were observed. Fourteen suspected cases (24.1%) are pending final disposition.

CONCLUSION

This study describes the demographics of newborns flagged for Galactosemia who underwent lactose challenge. A 1-week lactose challenge may be recommended to further detect patients who are negative for Galactosemia.

Human ; Infant Newborn: First 28 Days After Birth ; Galactosemias

Incontinentia Pigmenti (IP) is an X-linked dominant genodermatosis caused by a mutation of the NEMO or IKBKG gene. Cutaneous manifestations are common, however, involvement of the eyes, teeth, and central nervous system can also be seen. Genetic counseling plays a vital part in the management, as well as a multidisciplinary approach involving other specialties.

This is a case of a newborn female with unremarkable birth and maternal history who presented with erythematous papules, vesicles, and pustules on the trunk, upper extremities, and lower extremities upon birth. She was born term via normal spontaneous delivery to a 34-year-old G1P0 with no known personal and family history of dermatologic or other genetic conditions. On the 5th day of life, lesions started to form a whorl-like appearance, eventually turning hyperpigmented, with a blaschkoid distribution. Skin punch biopsy revealed several eosinophils on the dermis highly suggestive of IP. Dermoscopy showed polycyclic scaling with a yellowish center and erythematous halo. Genetic testing revealed a heterozygous pathogenic deletion encompassing exons 4-10 of the IKBKG gene, confirming the diagnosis of IP. Genetic counseling was done. The patient’s family was advised periodic monitoring and surveillance.

Dermoscopy in IP can provide an earlier diagnosis. Stage I shows a yellowish center and erythematous halo with yellowish serocrusts surrounded by polycyclic scaling. Only two cases of IP dermoscopy have been published so far. Dermoscopy complements histopathology in IP.

Human ; Female ; Infant Newborn: First 28 Days After Birth ; Dermoscopy ; Incontinentia Pigmenti

Congenital syphilis is a worldwide public health concern. This occurs when an infected mother transmits the infection to the fetus during pregnancy or at birth.

We present a case of a 6-day-old male, term, born to a mother with secondary syphilis, via normal spontaneous delivery. Upon birth, patient was well and not in cardiorespiratory distress. However, cutaneous examination revealed multiple, well-defined vesicles and pustules on an erythematous background, some topped with erosions and crusts on the scalp, face, extremities, and trunk. Laboratory work-up and imaging were done which revealed congenital syphilis. He was managed with intravenous Penicillin (100,000iu) 160,000 IV for ten days, and wound healing was hastened by use of a coconut-based cellulose wound dressing on the erosions. He was then referred to a multispecialty team to assess and co-manage possible complications. Regular interval follow-up and repeat laboratory tests were advised for observation and for monitoring.

Congenital syphilis is caused by the bacterium Treponema pallidum. Sequelae include preterm birth, low birth weight, skin lesions, bone deformities, hepatosplenomegaly, anemia, and neurological problems. Diagnosis can be made on clinical suspicion combined with Rapid Plasma Reagin (RPR) and Venereal Disease Research Laboratory (VDRL). Aside from Penicillin G, wound care, nutritional build up, and close monitoring of growth and development with regular follow-ups are essential aspects in the management of congenital syphilis. With timely and adequate treatment, infants have a higher likelihood of complete resolution of symptoms, prevention of long-term complications, and improved overall health outcomes.

Human ; Male ; Infant Newborn: First 28 Days After Birth ; Syphilis, Congenital ; Syphilis