Case Presentation A 26-month-old boy presented to our hospital with periorbital edema and ascites. The patient was being followed up at another center for nystagmus and microcephaly. He was the only child of a nonconsanguineous healthy couple. [hindawi.com]

Treatment-resistant nephrotic syndrome generally presents in the third month of life, but albuminuria may be present from birth 1. Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. [radiopaedia.org]

Here, we show that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis. [okina.univ-angers.fr]

Case presentation We present the clinical and genetic characteristics of two unrelated infants with clinical suspicion of GAMOS who were born from consanguineous parents. [bmcnephrol.biomedcentral.com]

Severe intellectual disability is often present. [rarediseases.org]

• Developmental Delay

  Abstract The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. [koreascience.or.kr]

  This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephritic syndrome became apparent at 5 years of age [vlibrary.emro.who.int]

  The neurological features include microcephaly, developmental delay, seizures, hypotonia, abnormal sulci and gyri, and abnormal cerebellum. [jcnonweb.com]

  Abstract Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. [pubmed.ncbi.nlm.nih.gov]

• Low Set Ears

  His heads circumference was 48 cm (below 3 rd percentile), with abnormal shaped skull, narrow forehead, large and low set ears, micrognathia with malocclusion and a moon shaped face, [Figure - 1],[Figure - 2]. [sjkdt.org]

  The patient presented dysmorphic features (wide nasal bridge, aquiline nose and retrognathia, low set ears, and arachnodactyly) with axial hypotonia and poor eye contact. [bmcnephrol.biomedcentral.com]

• Visual Impairment

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [wikidoc.org]

• Visual Impairment

  Other features include, but are not limited to, hiatal hernia, seizures, dystonia, generalized hypotonia, and visual impairment. These features are variable among patients, and have overlapping presentations with other disorders. [preventiongenetics.com]

  Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements [wikidoc.org]

• Seizure

  This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephritic syndrome became apparent at 5 years of age [vlibrary.emro.who.int]

  Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

• Encephalopathy

  […] ultrasound and perinatal magnetic resonance imaging findings. 61 Chen CP...Wang W 21791310 2011 39 Neuropathological homology in true Galloway-Mowat syndrome. 61 Keith J...Robitaille Y 21233460 2011 40 Galloway-Mowat syndrome: an early-onset progressive encephalopathy [malacards.org]

  Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review literature. [rarediseases.org]

• Renal Insufficiency

  One of the affected siblings presented with nephrotic syndrome at the age of 5 years, rapidly developed chronic renal insufficiency, and died after a month, while the other had no renal symptoms at the age of 7 years [3]. [bmcnephrol.biomedcentral.com]

Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

OR Surgery is not the first-line treatment option for patients with [disease name]. [wikidoc.org]

Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.org]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

OR Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. [wikidoc.org]

Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.org]

Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. WD repeat-containing protein 73 (WDR73), which is a critical scaffold component of protein-complex assembly, was the first to be identified 1,2. [radiopaedia.org]

However, the genetic etiology of more than three-quarters of patients with a clinical diagnosis of GAMOS remains elusive, suggesting that additional causative genes remain to be identified. [bmcnephrol.biomedcentral.com]

Epidemiology and Demographics Galloway-Mowat syndrome affects males and females in equal numbers. More than 70 cases have been reported in the medical literature. [wikidoc.org]

OR The pathophysiology of [disease/malignancy] depends on the histological subtype. Causes In 2014, Galloway-Mowat syndrome was shown to be caused by alterations (mutations) in the WDR73 gene in a subset of cases. [wikidoc.org]

In 1994, Cohen and Turner examined kidney tissues of the patients using antibodies against glomerular basal membrane, tubular basal membrane, type IV collagen, and laminin along with different stains in an attempt to understand the pathophysiology of [hindawi.com]

Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3]. Secondary Prevention There are no established measures for the secondary prevention of [disease name]. [wikidoc.org]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]