We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. [cureus.com]

We present a case of this subtype 4 that… Expand [semanticscholar.org]

Sensorineural deafness can be present in 50 percent of the cases, presenting at birth or later in life, but mental deficiency is not seen. The clinical picture of this syndrome is very typical. [escholarship.org]

Introduction Waardenburg syndrome (WS) is a rare inherited disorder of autosomal recessive type with variable clinical presentation. [perioperativemedicinejournal.biomedcentral.com]

There have only been a total of 50 cases reported in total as of 2016.[1] Presentation[edit] The blue irises seen in the image present a common phenotype seen by patient of Type 4A Waardenburg Syndrome. [en.wikipedia.org]

• Sepsis

  Electrolyte imbalance, infections, and total parenteral nutrition (TPN) and catheter-related complications (sepsis and catheter blockage) can develop. The usual cause of mortality in these patients is sepsis and hepatic failure [17-18]. [cureus.com]

• Underweight

  Case Presentation A 2.5-year-old male child, apparently healthy but underweight, with a body mass index (BMI) of 17.7 (12.2 pounds, 22.5 inches) presented to the pediatric developmental wellness clinic at The Children’s Hospital, Lahore, Pakistan, with [cureus.com]

• Aspiration

  He had no nasogastric aspirate and no fecal output from the stoma. The 2nd exploratory laparotomy was performed, and multiple full thickness biopsies were taken for frozen section which showed ganglion cells in the distal jejunum. [perioperativemedicinejournal.biomedcentral.com]

• Bilious Vomiting

  This patient presented with iris hypopigmentation and poliosis as white forelock, white eyelashes associated with bilious vomiting, deafness, refusal to feed, and failure to pass meconium indicating intestinal obstruction. [perioperativemedicinejournal.biomedcentral.com]

  Past medical history included episodes of bilious vomiting, failure to thrive, and multiple bouts of severe constipation at the age of six months. [cureus.com]

• Persistent Vomiting

  The patient was admitted to NICU and was managed for vomiting which settled after 3 h. His abdomen started distending with palpable gut loops on the 2nd post-natal day (PND). He also developed persistent vomiting and jaundice. [perioperativemedicinejournal.biomedcentral.com]

• Absent Bowel Sounds

  Patient’s condition was critical on the 21st post-natal day, developed acidotic breathing with persistent abdominal distension, and absent bowel sounds. He had no nasogastric aspirate and no fecal output from the stoma. [perioperativemedicinejournal.biomedcentral.com]

• Hypertension

  His mother had gestational hypertension and his parents had consanguineous marriage. Two other siblings were alive and healthy. [perioperativemedicinejournal.biomedcentral.com]

• White Eyebrows

  Figure 1 Figure 2 Figure 3 Figure 4 Discussion Shah-Waardenburg syndrome is an unusual variant of Waardenburg syndrome that is associated with white forelock, white eyebrows and eyelashes, heterochromic irides, and intestinal obstruction associated with [escholarship.org]

  Their eyes also present abnormal pigmentation such as heterochromia iridis or uncharacteristic blue eyes.[1] The study conducted by Shah reported additional physical features such as white eyebrows and eyelashes as well, which is not seen in other types [en.wikipedia.org]

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 White forelock White part of hair above forehead 0002211 Showing of 35 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice [rarediseases.info.nih.gov]

• Heterochromia Iridis

  Major criteria Sensorineural deafness Iris pigmentary abnormality, such as heterochromia iridis – complete, partial, or segmental; isohypochromia iridis; or fundus pigmentary abnormalities Abnormalities of hair pigmentation, such as white forelock, eyebrows [dermnetnz.org]

  This is known as heterochromia iridis. Heterochromia can exist without the presence of Waardenburg syndrome. In some newborns with Waardenburg syndrome, the condition is obvious at birth. [healthline.com]

  Major Criteria Congenital sensorineural hearing loss Pigmentary abnormality of the eyes: heterochromia iridis, isohypochromia iridis or pigementary defects of the fundus First degree relative with Waardenburg syndrome Pigmentary defects of hair: white [cureus.com]

  Their eyes also present abnormal pigmentation such as heterochromia iridis or uncharacteristic blue eyes.[1] The study conducted by Shah reported additional physical features such as white eyebrows and eyelashes as well, which is not seen in other types [en.wikipedia.org]

  iridis Different colored eyes 0001100 Hypogonadism Decreased activity of gonads 0000135 Hypopigmented skin patches Patchy loss of skin color 0001053 Leukodystrophy 0002415 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus Involuntary, rapid [rarediseases.info.nih.gov]

• High Nasal Root

  Upon a physical examination, the patient had blue homochromatic irises with a normal visual response, coarse hair texture, pallor of nails, and a slightly broad high nasal root. [cureus.com]

• Aphasia

  The orientation of the patient could not be assessed due to the aphasia, although he was alert. The patient was afebrile with a heart rate of 85 bpm, blood pressure of 110/85 mmHg, and respiratory rate of 18/min. [cureus.com]

• Global Developmental Delay

  developmental delay 0001263 Heterochromia iridis Different colored eyes 0001100 Hypogonadism Decreased activity of gonads 0000135 Hypopigmented skin patches Patchy loss of skin color 0001053 Leukodystrophy 0002415 Muscular hypotonia Low or weak muscle [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

If hypopigmentation affects more than half the body, depigmentation treatments may help. These treatments bleach all of your skin. They can make lighter patches less obvious. [healthline.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Standard Therapies Treatment The treatment of WS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

What is the treatment for Waardenburg syndrome? There is no direct treatment for Waardenburg syndrome itself, and as it is a genetic condition there is no cure. Genetic counselling may be beneficial for affected patients who want to start a family. [dermnetnz.org]

Genetic counseling must be provided for families with this disorder, and the occurrence rate depends on the specific molecular etiology. References 1. [escholarship.org]

The parents of our patient were counseled in detail about the etiology and symptoms of WS. The child was referred to a specialist for hearing aid and speech therapy. [cureus.com]

These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps. [rarediseases.org]

Hearing aids can be employed for hearing deficits and can further help prevent speech and cognitive deficits. Melanin in healthy individuals protects against ultraviolet (UV) damage. [cureus.com]