Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome

Menkes disease, so-called kinky hair disease or steely hair disease, is a rare X-linked recessive disorder of intracellular copper transport protein ATP7A defect, due to mutation of ATP7A gene, resulting in copper deficiency. It is characterized by seizure, retarded neurological development, kinky hair, skeletal abnormality, recurrent infection and subnormal body temperature. In addition, gastroesophageal reflux with the risk of aspiration is another important feature. This article is the first report of anesthetic management in a patient with Menkes disease who underwent gastrostomy and bladder diverticulectomy in Korea.
Body Temperature ; Copper ; Gastroesophageal Reflux ; Gastrostomy ; Hair ; Humans ; Korea ; Menkes Kinky Hair Syndrome* ; Seizures ; Urinary Bladder

OBJECTIVETo study the clinical and laboratory features of the patients with Menkes disease.

METHODThree infants were diagnosed as Menkes disease. Their clinical feature, laboratory findings, radiological manifestation and genes were reviewed.

RESULTAll the three cases were male infants. Their clinical manifestations began at the 3, 5 and 6 months after birth. They all had light complexion, sparse fuzzy woolly hair. The main clinical manifestation was severe mental retardation. The first and the third case also had focal clonus seizures. The second case had feeding difficulty after birth. Their hair showed pili torti and trichorrhexis nodosa microscopically. Their ceruloplasmin in plasma were 32.3 mg/L, 72.5 mg/L and 60.7 mg/L, which were significantly lower as compared with the normal values. Their neuroimaging findings were cortical atrophy, delayed myelination of the white matter and tortuosity of the intracranial vessels. The gene examination of the first and the second case showed deletion and nonsense mutation on exon 14 respectively.

CONCLUSIONMenkes disease is an X-linked recessive disorder characterized by a copper-transporting ATPase defect. The main clinical manifestation is progressive nerve damage. Patients with the disease have special face and hair abnormality, and have morphological changes of brain blood vessels and cerebral atrophy.

Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severeneurodegenerative change and infant death. In 1962, Menkes and associates described five boys of a relatedpedigree with severe psychomotor retadation, seizures and widespread cerebral and cerebellar degeneration. In1969, Wesenberg and associated specified the radiological characterization of the syndrom. Symmetrical metaphsealspurring and diaphyseal periosteal reaction fo the long bones, anterior rib flaring, a malformed cerebral arterialsystem and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect ofcopper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinicalpicture, and report cebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSAand post-mortem angiography.
Angiography ; Brain ; Copper ; Infant Death ; Menkes Kinky Hair Syndrome ; Metabolism ; Ribs ; Seizures ; Subdural Effusion

Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four-month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.
Biopsy ; Cholestasis ; Copper ; Hair ; Hepatomegaly ; Infant ; Infant, Newborn ; Liver ; Menkes Kinky Hair Syndrome ; Muscle Hypotonia ; Necrosis ; Seizures ; Skin ; Spasms, Infantile

We report here on the diffusion-weighted imaging of unusual white matter lesions in a case of Menkes disease. On the initial MR imaging, the white matter lesions were localized in the deep periventricular white matter in the absence of diffuse cortical atrophy. The lesion showed diffuse high signal on the diffusion-weighted images and diffuse progression and persistent hyperintensity on the follow up imaging. Our case suggests that the white matter lesion may precede diffuse cortical atrophy in a patient with Menkes disease.
Menkes Kinky Hair Syndrome/*diagnosis ; Male ; Infant ; Humans ; *Diffusion Magnetic Resonance Imaging ; Diagnosis, Differential ; Brain Diseases/*diagnosis ; Atrophy

OBJECTIVE: To explore the clinical characteristics and variants of ATP7A gene in a child with Menkes disease. METHODS: A child with Menkes disease diagnosed at the West China Second Hospital of Sichuan University and its family members in March 2022 was selected as the study subjects. Clinical manifestations and results of laboratory tests and genetic testing were summarized. RESULTS: The main manifestations of the child included seizures, global development delay, facial dysmorphism, sparse and curly hair, increased lactate and pyruvate, and significantly decreased cuprin. EEG showed frequent issuance of multifocal spikes, spines, polyspines (slow) and polymorphic slow waves. Multiple tortuous vascular shadows were observed on cranial MRI. Whole exome sequencing revealed that the child has harbored a hemizygous c.3076delA (p.ile1026*) variant of the ATP7A gene, which was inherited from his mother. The variant may lead to premature termination of protein translation. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PM2+PP4). CONCLUSION The c.3076delA (p.Ile1026*) variant of the ATP7A gene probably underlay the Menkes disease in this child. Above finding has provided evidence for clinical diagnosis. The significantly increased lactic acid and pyruvate can be used as a reference for the diagnosis and management of Menkes disease. Microscopic abnormalities in the hair of the carriers may also facilitate their diagnosis.
Child ; Humans ; Copper-Transporting ATPases/genetics* ; East Asian People ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Pedigree ; Peptide Fragments ; Pyruvic Acid

Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.
Adenosine Triphosphatases ; Aneurysm ; Connective Tissue ; Copper ; Cutis Laxa ; Diverticulum ; Early Diagnosis ; Hair ; Hair Diseases ; Humans ; Hypopigmentation ; Joint Instability ; Menkes Kinky Hair Syndrome ; Skin ; Urinary Bladder

Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.
Adenosine Triphosphatases ; Aneurysm ; Connective Tissue ; Copper ; Cutis Laxa ; Diverticulum ; Early Diagnosis ; Hair ; Hair Diseases ; Humans ; Hypopigmentation ; Joint Instability ; Menkes Kinky Hair Syndrome ; Skin ; Urinary Bladder

Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.
Arm ; Atrophy ; Brain ; Ceruloplasmin ; Congenital Abnormalities ; Connective Tissue ; Copper ; Epilepsy ; Exons ; Follow-Up Studies* ; Hair ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome* ; Seizures ; Urinary Bladder